NM_000465.4(BARD1):c.33G>T (p.Gln11His) AND Familial cancer of breast

Germline classification:: Benign/Likely benign (7 submissions)
Last evaluated:: Feb 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000195673.24

Allele description [Variation Report for NM_000465.4(BARD1):c.33G>T (p.Gln11His)]

NM_000465.4(BARD1):c.33G>T (p.Gln11His)

Gene:

BARD1:BRCA1 associated RING domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000465.4(BARD1):c.33G>T (p.Gln11His)

Other names:

p.Q11H:CAG>CAT

HGVS:

NC_000002.12:g.214809537C>A
NG_012047.3:g.5175G>T
NM_000465.4:c.33G>TMANE SELECT
NM_001282543.2:c.33G>T
NM_001282545.2:c.33G>T
NM_001282548.2:c.33G>T
NM_001282549.2:c.33G>T
NP_000456.2:p.Gln11His
NP_001269472.1:p.Gln11His
NP_001269474.1:p.Gln11His
NP_001269477.1:p.Gln11His
NP_001269478.1:p.Gln11His
LRG_297t1:c.33G>T
LRG_297:g.5175G>T
LRG_297p1:p.Gln11His
NC_000002.11:g.215674261C>A
NG_012047.2:g.5168G>T
NM_000465.2:c.33G>T
NM_000465.3:c.33G>T
NR_104212.2:n.147G>T
NR_104215.2:n.147G>T
NR_104216.2:n.147G>T
p.Q11H

Protein change:

Q11H

Links:

dbSNP: rs143914387

NCBI 1000 Genomes Browser:

rs143914387

Molecular consequence:

NM_000465.4:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282543.2:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282545.2:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282548.2:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001282549.2:c.33G>T - missense variant - [Sequence Ontology: SO:0001583]
NR_104212.2:n.147G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104215.2:n.147G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104216.2:n.147G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Familial cancer of breast
Synonyms:: Breast cancer, familial; Hereditary breast cancer
Identifiers:: MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480

Recent activity

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NADH dehydrogenase subunit 4, partial (mitochondrion) [Manouria emys]
NADH dehydrogenase subunit 4, partial (mitochondrion) [Manouria emys]
gi|1064288846|gb|AOP02191.1|

Protein
translation elongation factor 1-alpha, partial [Fusarium verticillioides]
translation elongation factor 1-alpha, partial [Fusarium verticillioides]
gi|2574168657|gb|WMV02739.1|

Protein
hypothetical protein DASB73_004710 [Starmerella bacillaris]
hypothetical protein DASB73_004710 [Starmerella bacillaris]
gi|2640211474|dbj|GMM49513.1||gnl|W GC|GMM49513

Protein
AGENCOURT_39737380 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7764061 5', mR...
AGENCOURT_39737380 NICHD_XGC_Te2N Xenopus laevis cDNA clone IMAGE:7764061 5', mRNA sequence
gi|56701048|gnl|dbEST|26750960|gb|C 26.1|

Nucleotide
JGI_CAAN11764.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11764 5', mR...
JGI_CAAN11764.fwd NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11764 5', mRNA sequence
gi|58717646|gnl|dbEST|27634807|gb|C 88.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000252708	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000427228	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Likely benign (Jan 13, 2018)	germline	clinical testing	Citation Link,
SCV000489446	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Likely benign (Oct 11, 2016)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 26979391, 27443514, 26315354, 27328445, 26898890 Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV001136204	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2017)	Likely benign (May 28, 2019)	unknown	clinical testing	Citation Link,
SCV002807460	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely benign (Aug 13, 2021)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004016367	KCCC/NGS Laboratory, Kuwait Cancer Control Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Jul 7, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004019256	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely benign (Feb 24, 2023)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Poly (ADP-Ribose) Polymerase Inhibitor Hypersensitivity in Aggressive Myeloproliferative Neoplasms.

Pratz KW, Koh BD, Patel AG, Flatten KS, Poh W, Herman JG, Dilley R, Harrell MI, Smith BD, Karp JE, Swisher EM, McDevitt MA, Kaufmann SH.

Clin Cancer Res. 2016 Aug 1;22(15):3894-902. doi: 10.1158/1078-0432.CCR-15-2351. Epub 2016 Mar 15.

PubMed [citation]

PMID:: 26979391
PMCID:: PMC5041297

See all PubMed Citations (8)

Details of each submission

From Invitae, SCV000252708.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Illumina Laboratory Services, Illumina, SCV000427228.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Counsyl, SCV000489446.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Mendelics, SCV001136204.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Fulgent Genetics, Fulgent Genetics, SCV002807460.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From KCCC/NGS Laboratory, Kuwait Cancer Control Center, SCV004016367.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Myriad Genetics, Inc., SCV004019256.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant is considered likely benign. This variant is strongly associated with less severe personal and family histories of cancer, typical for individuals without pathogenic variants in this gene [PMID: 25085752].

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 8, 2024

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