This variant is a substitution of the last nucleotide of intron 17 of the BRCA gene. This particular position is highly conserved in human as well as in other genomes. It is expected that this variant affects the correct mRNA splicing and results in the deletion of an entire exon. This causes the formation of a truncated non functional protein. This mutation has been described in breast cancer patients (PMID: 16616110). This particular variant has been described in the mutation database ClinVar (Variation ID: 55377/)
ClinVar Genomic variation as it relates to human health
NM_007294.4(BRCA1):c.5075-1G>A
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(12)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic/Likely pathogenic
12
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_007294.4(BRCA1):c.5075-1G>A
Variation ID: 55377 Accession: VCV000055377.43
- Type and length
-
single nucleotide variant, 1 bp
- Location
-
Cytogenetic: 17q21.31 17: 43063952 (GRCh38) [ NCBI UCSC ] 17: 41215969 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Apr 1, 2014 Oct 20, 2024 Nov 29, 2023 - HGVS
- ... more HGVS ... less HGVS
- Protein change
- -
- Other names
-
IVS17-1G>A
- Canonical SPDI
- NC_000017.11:43063951:C:T
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
functionally_abnormal; Sequence Ontology [ SO:0002218]The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5075-1G>A, a CANONICAL SPLICE variant, produced a function score of -1.84, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. [submitted by Brotman Baty Institute, University of Washington]
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Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
Trans-Omics for Precision Medicine (TOPMed) 0.00000
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| BRCA1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
13044 | 14850 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
| Pathogenic/Likely pathogenic (4) |
criteria provided, multiple submitters, no conflicts
|
Mar 14, 2023 | RCV000112485.16 | |
| Pathogenic (2) |
criteria provided, multiple submitters, no conflicts
|
Aug 1, 2020 | RCV000480623.29 | |
| Pathogenic/Likely pathogenic (3) |
criteria provided, multiple submitters, no conflicts
|
Nov 29, 2023 | RCV000496384.20 | |
| Pathogenic (1) |
criteria provided, single submitter
|
- | RCV000504600.9 | |
| Pathogenic (1) |
criteria provided, single submitter
|
Jan 1, 2020 | RCV000585700.11 | |
| Likely pathogenic (1) |
criteria provided, single submitter
|
Nov 9, 2021 | RCV000579615.13 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
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Pathogenic
(-)
|
criteria provided, single submitter
Method: research
|
breast cancer
Affected status: not provided
Allele origin:
germline
|
Yang An-Suei Laboratory, Academia Sinica
Accession: SCV000575770.1
First in ClinVar: Sep 08, 2017 Last updated: Sep 08, 2017 |
|
|
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Pathogenic
(Jan 01, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary Breast Carcinoma
Affected status: yes
Allele origin:
germline
|
GeneKor MSA
Accession: SCV000693543.3
First in ClinVar: Mar 04, 2018 Last updated: Apr 22, 2020 |
Comment:
This variant is a substitution of the last nucleotide of intron 17 of the BRCA gene. This particular position is highly conserved in human as … (more)
This variant is a substitution of the last nucleotide of intron 17 of the BRCA gene. This particular position is highly conserved in human as well as in other genomes. It is expected that this variant affects the correct mRNA splicing and results in the deletion of an entire exon. This causes the formation of a truncated non functional protein. This mutation has been described in breast cancer patients (PMID: 16616110). This particular variant has been described in the mutation database ClinVar (Variation ID: 55377/) (less)
|
|
|
Likely pathogenic
(Feb 01, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
|
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
Accession: SCV000966916.2
First in ClinVar: Aug 26, 2019 Last updated: Aug 26, 2019 |
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Number of individuals with the variant: 2
|
|
|
Likely pathogenic
(May 04, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000677656.2
First in ClinVar: Apr 01, 2014 Last updated: Dec 24, 2022 |
|
|
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Pathogenic
(Mar 14, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Breast-ovarian cancer, familial, susceptibility to, 1
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004215189.1
First in ClinVar: Dec 30, 2023 Last updated: Dec 30, 2023 |
|
|
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Likely pathogenic
(Nov 09, 2021)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
|
Color Diagnostics, LLC DBA Color Health
Accession: SCV000683249.4
First in ClinVar: Feb 19, 2018 Last updated: Feb 14, 2024 |
Comment:
This variant causes a G to A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. Splice site prediction tools predict … (more)
This variant causes a G to A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. A functional study has reported that this variant impacts BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has been detected in three individuals affected with breast cancer (PMID: 16616110; Color internal data) and additional families suspected of hereditary breast and ovarian cancer (PMID: 12402332, 29310832, 29566657). Other canonical splice acceptor site variants in intron 16 have been reported as disease-causing in ClinVar (variation ID 55378, 55379, 55380, 125759, 252381) and reported in individuals or families affected with breast or ovarian cancer (PMID: 29446198, 30287823). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic. (less)
|
|
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Pathogenic
(Jun 25, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
Not Provided
Affected status: yes
Allele origin:
germline
|
GeneDx
Accession: SCV000564746.3
First in ClinVar: Apr 27, 2017 Last updated: Apr 17, 2019 |
Comment:
This variant is denoted BRCA1 c.5075-1G>A or IVS16-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 16 of the BRCA1 … (more)
This variant is denoted BRCA1 c.5075-1G>A or IVS16-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. The variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant, also known as BRCA1 5194-1G>A and IVS17-1G>A using alternate nomenclature, has been reported in individuals suspected of having hereditary breast/ovarian cancer as well as in at least one individual with metastatic prostate cancer (Jara 2006, Pritchard 2016, Apessos 2018, Wang 2018). We consider this variant to be pathogenic. (less)
|
|
|
Pathogenic
(Nov 29, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Hereditary breast ovarian cancer syndrome
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV001585896.4
First in ClinVar: May 10, 2021 Last updated: Feb 14, 2024 |
Comment:
This sequence change affects an acceptor splice site in intron 16 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt … (more)
This sequence change affects an acceptor splice site in intron 16 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 12402332, 27433846, 29566657). This variant is also known as IVS17-1G>A. ClinVar contains an entry for this variant (Variation ID: 55377). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of this splice site affects BRCA1 function (PMID: 30209399). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 24667779). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
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Pathogenic
(Aug 01, 2020)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
CeGaT Center for Human Genetics Tuebingen
Accession: SCV001501175.23
First in ClinVar: Mar 14, 2021 Last updated: Oct 20, 2024 |
Number of individuals with the variant: 1
|
|
|
Pathogenic
(Jun 22, 1999)
|
no assertion criteria provided
Method: clinical testing
|
Breast-ovarian cancer, familial 1
Affected status: yes
Allele origin:
germline
|
Breast Cancer Information Core (BIC) (BRCA1)
Accession: SCV000145296.1
First in ClinVar: Apr 01, 2014 Last updated: Apr 01, 2014 |
Number of individuals with the variant: 1
Ethnicity/Population group: Ashkenazi
|
|
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Pathogenic
(Jan 31, 2014)
|
no assertion criteria provided
Method: research
|
Hereditary breast ovarian cancer syndrome
Affected status: yes
Allele origin:
germline
|
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto
Study: The Canadian Open Genetics Repository (COGR)
Accession: SCV000587455.1 First in ClinVar: Aug 07, 2017 Last updated: Aug 07, 2017 |
|
|
|
not provided
(-)
|
no classification provided
Method: in vitro
|
Breast-ovarian cancer, familial 1
Affected status: not applicable
Allele origin:
not applicable
|
Brotman Baty Institute, University of Washington
Accession: SCV001244048.1
First in ClinVar: Apr 18, 2020 Last updated: Apr 18, 2020 |
Method: saturation genome editing in haploid cells
Result:
LOSS_OF_FUNCTION:-1.83563575000238
|
|
| click to load more click to collapse | |||||
Comment:
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Comment:
This variant causes a G to A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. A functional study has reported that this variant impacts BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has been detected in three individuals affected with breast cancer (PMID: 16616110; Color internal data) and additional families suspected of hereditary breast and ovarian cancer (PMID: 12402332, 29310832, 29566657). Other canonical splice acceptor site variants in intron 16 have been reported as disease-causing in ClinVar (variation ID 55378, 55379, 55380, 125759, 252381) and reported in individuals or families affected with breast or ovarian cancer (PMID: 29446198, 30287823). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.
Comment:
This variant is denoted BRCA1 c.5075-1G>A or IVS16-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. The variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant, also known as BRCA1 5194-1G>A and IVS17-1G>A using alternate nomenclature, has been reported in individuals suspected of having hereditary breast/ovarian cancer as well as in at least one individual with metastatic prostate cancer (Jara 2006, Pritchard 2016, Apessos 2018, Wang 2018). We consider this variant to be pathogenic.
Comment:
This sequence change affects an acceptor splice site in intron 16 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 12402332, 27433846, 29566657). This variant is also known as IVS17-1G>A. ClinVar contains an entry for this variant (Variation ID: 55377). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of this splice site affects BRCA1 function (PMID: 30209399). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 24667779). For these reasons, this variant has been classified as Pathogenic.
Germline Functional Evidence
| Functional
Help
The functional consequence of the variant, based on experimental evidence and provided by the submitter. consequence |
Method
Help
A brief description of the method used to determine the functional consequence of the variant. A citation for the method is included, when provided by the submitter. |
Result
Help
A brief description of the result of this method for this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting functional evidence for the germline classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|---|---|---|---|---|
|
functionally_abnormal
|
Method citation(s):
|
|
Brotman Baty Institute, University of Washington
Accession: SCV001244048.1
|
Comment:
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5075-1G>A, a CANONICAL SPLICE variant, produced a function score of -1.84, corresponding to a functional classification of … (more)
The saturation genome editing (SGE) assay for BRCA1 NM_007294.3:c.5075-1G>A, a CANONICAL SPLICE variant, produced a function score of -1.84, corresponding to a functional classification of LOSS_OF_FUNCTION. SGE function score ranges for classification are as follows: ‘functional’, score > -0.748; ‘intermediate’, -0.748 > score > -1.328; ‘non-functional’, score < -1.328. The median synonymous SNV scored 0.0 and the median nonsense SNV scored -2.12. (less)
|
Comment:
This variant is a substitution of the last nucleotide of intron 17 of the BRCA gene. This particular position is highly conserved in human as well as in other genomes. It is expected that this variant affects the correct mRNA splicing and results in the deletion of an entire exon. This causes the formation of a truncated non functional protein. This mutation has been described in breast cancer patients (PMID: 16616110). This particular variant has been described in the mutation database ClinVar (Variation ID: 55377/)
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory
Comment:
This variant causes a G to A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. Splice site prediction tools predict that this variant may have a significant impact on RNA splicing. A functional study has reported that this variant impacts BRCA1 function in a haploid human cell proliferation assay (PMID: 30209399). This variant has been detected in three individuals affected with breast cancer (PMID: 16616110; Color internal data) and additional families suspected of hereditary breast and ovarian cancer (PMID: 12402332, 29310832, 29566657). Other canonical splice acceptor site variants in intron 16 have been reported as disease-causing in ClinVar (variation ID 55378, 55379, 55380, 125759, 252381) and reported in individuals or families affected with breast or ovarian cancer (PMID: 29446198, 30287823). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Loss of BRCA1 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Likely Pathogenic.
Comment:
This variant is denoted BRCA1 c.5075-1G>A or IVS16-1G>A and consists of a G>A nucleotide substitution at the -1 position of intron 16 of the BRCA1 gene. The variant destroys a canonical splice acceptor site and is predicted to cause abnormal gene splicing, leading to either an abnormal message that is subject to nonsense-mediated mRNA decay or to an abnormal protein product. This variant, also known as BRCA1 5194-1G>A and IVS17-1G>A using alternate nomenclature, has been reported in individuals suspected of having hereditary breast/ovarian cancer as well as in at least one individual with metastatic prostate cancer (Jara 2006, Pritchard 2016, Apessos 2018, Wang 2018). We consider this variant to be pathogenic.
Comment:
This sequence change affects an acceptor splice site in intron 16 of the BRCA1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 12402332, 27433846, 29566657). This variant is also known as IVS17-1G>A. ClinVar contains an entry for this variant (Variation ID: 55377). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that disruption of this splice site affects BRCA1 function (PMID: 30209399). Studies have shown that disruption of this splice site alters mRNA splicing and is expected to lead to the loss of protein expression (PMID: 24667779). For these reasons, this variant has been classified as Pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls. | Momozawa Y | Nature communications | 2018 | PMID: 30287823 |
| Accurate classification of BRCA1 variants with saturation genome editing. | Findlay GM | Nature | 2018 | PMID: 30209399 |
| Germline breast cancer susceptibility gene mutations and breast cancer outcomes. | Wang YA | BMC cancer | 2018 | PMID: 29566657 |
| Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. | Rebbeck TR | Human mutation | 2018 | PMID: 29446198 |
| Comprehensive BRCA mutation analysis in the Greek population. Experience from a single clinical diagnostic center. | Apessos A | Cancer genetics | 2018 | PMID: 29310832 |
| Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. | Pritchard CC | The New England journal of medicine | 2016 | PMID: 27433846 |
| Functional characterization of BRCA1 gene variants by mini-gene splicing assay. | Steffensen AY | European journal of human genetics : EJHG | 2014 | PMID: 24667779 |
| Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. | Gonzalez-Hormazabal P | Breast cancer research and treatment | 2011 | PMID: 20859677 |
| Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. | Borg A | Human mutation | 2010 | PMID: 20104584 |
| BRCA1 and BRCA2 mutations in a South American population. | Jara L | Cancer genetics and cytogenetics | 2006 | PMID: 16616110 |
| Splicing in action: assessing disease causing sequence changes. | Baralle D | Journal of medical genetics | 2005 | PMID: 16199547 |
| A low frequency of non-founder BRCA1 mutations in Ashkenazi Jewish breast-ovarian cancer families. | Phelan CM | Human mutation | 2002 | PMID: 12402332 |
| Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: analysis of 10,000 individuals. | Frank TS | Journal of clinical oncology : official journal of the American Society of Clinical Oncology | 2002 | PMID: 11896095 |
| The school of dental medicine as a community resource. IV. The multidisciplinary head and neck cancer clinic. | Lurie AG | Journal - Connecticut State Dental Association | 1990 | PMID: 2152385 |
| https://sge.gs.washington.edu/BRCA1/ | - | - | - | - |
| click to load more click to collapse | ||||
Text-mined citations for rs1800747 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 10, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.