The c.2138C>T (p.S713L) alteration is located in exon 22 (coding exon 22) of the SORBS1 gene. This alteration results from a C to T substitution at nucleotide position 2138, causing the serine (S) at amino acid position 713 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_001034954.3(SORBS1):c.2138C>T (p.Ser713Leu)
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.
(1)
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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_001034954.3(SORBS1):c.2138C>T (p.Ser713Leu)
Variation ID: 2271158 Accession: VCV002271158.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 10q24.1 10: 95354958 (GRCh38) [ NCBI UCSC ] 10: 97114715 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Feb 8, 2023 May 1, 2024 Jan 10, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_001034954.3:c.2138C>T MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_001030126.2:p.Ser713Leu missense NM_001034955.2:c.2204C>T NP_001030127.2:p.Ser735Leu missense NM_001034956.2:c.1691C>T NP_001030128.2:p.Ser564Leu missense NM_001034957.3:c.1256C>T NP_001030129.2:p.Ser419Leu missense NM_001290294.2:c.2000C>T NP_001277223.2:p.Ser667Leu missense NM_001290295.2:c.1283C>T NP_001277224.2:p.Ser428Leu missense NM_001290296.2:c.2048C>T NP_001277225.2:p.Ser683Leu missense NM_001290297.3:c.1469C>T NP_001277226.2:p.Ser490Leu missense NM_001290298.3:c.1574C>T NP_001277227.2:p.Ser525Leu missense NM_001377197.1:c.1880C>T NP_001364126.1:p.Ser627Leu missense NM_001377198.1:c.1811C>T NP_001364127.1:p.Ser604Leu missense NM_001377199.1:c.1748C>T NP_001364128.1:p.Ser583Leu missense NM_001377200.1:c.1736C>T NP_001364129.1:p.Ser579Leu missense NM_001377201.1:c.1721C>T NP_001364130.1:p.Ser574Leu missense NM_001377202.1:c.1625C>T NP_001364131.1:p.Ser542Leu missense NM_001377203.1:c.1538C>T NP_001364132.1:p.Ser513Leu missense NM_001377204.1:c.1535C>T NP_001364133.1:p.Ser512Leu missense NM_001377205.1:c.1511C>T NP_001364134.1:p.Ser504Leu missense NM_001377206.1:c.1463C>T NP_001364135.1:p.Ser488Leu missense NM_001377207.1:c.1442C>T NP_001364136.1:p.Ser481Leu missense NM_001377208.1:c.1538C>T NP_001364137.1:p.Ser513Leu missense NM_001377209.1:c.1367C>T NP_001364138.1:p.Ser456Leu missense NM_001384447.1:c.2948C>T NP_001371376.1:p.Ser983Leu missense NM_001384448.1:c.2987C>T NP_001371377.1:p.Ser996Leu missense NM_001384449.1:c.3014C>T NP_001371378.1:p.Ser1005Leu missense NM_001384450.1:c.2948C>T NP_001371379.1:p.Ser983Leu missense NM_001384451.1:c.2948C>T NP_001371380.1:p.Ser983Leu missense NM_001384452.1:c.3014C>T NP_001371381.1:p.Ser1005Leu missense NM_001384453.1:c.3014C>T NP_001371382.1:p.Ser1005Leu missense NM_001384454.1:c.3014C>T NP_001371383.1:p.Ser1005Leu missense NM_001384455.1:c.1469C>T NP_001371384.1:p.Ser490Leu missense NM_001384456.1:c.1469C>T NP_001371385.1:p.Ser490Leu missense NM_001384457.1:c.1469C>T NP_001371386.1:p.Ser490Leu missense NM_001384458.1:c.1739C>T NP_001371387.1:p.Ser580Leu missense NM_001384459.1:c.1730C>T NP_001371388.1:p.Ser577Leu missense NM_001384460.1:c.1667C>T NP_001371389.1:p.Ser556Leu missense NM_001384461.1:c.1571C>T NP_001371390.1:p.Ser524Leu missense NM_001384462.1:c.1544C>T NP_001371391.1:p.Ser515Leu missense NM_001384463.1:c.1508C>T NP_001371392.1:p.Ser503Leu missense NM_001384464.1:c.1496C>T NP_001371393.1:p.Ser499Leu missense NM_001384465.1:c.1703C>T NP_001371394.1:p.Ser568Leu missense NM_001419685.1:c.2138C>T NP_001406614.1:p.Ser713Leu missense NM_001419702.1:c.2075C>T NP_001406631.1:p.Ser692Leu missense NM_001419703.1:c.1970C>T NP_001406632.1:p.Ser657Leu missense NM_001419704.1:c.2057C>T NP_001406633.1:p.Ser686Leu missense NM_006434.4:c.1256C>T NP_006425.3:p.Ser419Leu missense NM_015385.4:c.1652C>T NP_056200.2:p.Ser551Leu missense NM_024991.3:c.1379C>T NP_079267.2:p.Ser460Leu missense NC_000010.11:g.95354958G>A NC_000010.10:g.97114715G>A NG_034041.2:g.211413C>T - Protein change
- S1005L, S419L, S456L, S460L, S499L, S504L, S512L, S564L, S574L, S577L, S579L, S604L, S428L, S481L, S488L, S490L, S503L, S551L, S583L, S683L, S996L, S513L, S515L, S524L, S525L, S542L, S556L, S627L, S667L, S713L, S735L, S983L, S568L, S580L, S657L, S686L, S692L
- Other names
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- Canonical SPDI
- NC_000010.11:95354957:G:A
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
Help
The frequency of the allele represented by this VCV record.
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- 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. |
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| SORBS1 | - | - |
GRCh38 GRCh37 |
112 | 142 | |
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
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Jan 10, 2022 | RCV004125865.1 |
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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Uncertain significance
(Jan 10, 2022)
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criteria provided, single submitter
Method: clinical testing
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not specified
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003597258.2
First in ClinVar: Feb 07, 2023 Last updated: May 01, 2024 |
Comment:
The c.2138C>T (p.S713L) alteration is located in exon 22 (coding exon 22) of the SORBS1 gene. This alteration results from a C to T substitution … (more)
The c.2138C>T (p.S713L) alteration is located in exon 22 (coding exon 22) of the SORBS1 gene. This alteration results from a C to T substitution at nucleotide position 2138, causing the serine (S) at amino acid position 713 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. (less)
|
Comment:
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The c.2138C>T (p.S713L) alteration is located in exon 22 (coding exon 22) of the SORBS1 gene. This alteration results from a C to T substitution at nucleotide position 2138, causing the serine (S) at amino acid position 713 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Citations for germline classification of this variant
Help| There are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Nov 03, 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.