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NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Sep 1, 2021)
Last evaluated:
May 17, 2021
Accession:
VCV000134862.12
Variation ID:
134862
Description:
single nucleotide variant
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NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu)

Allele ID
138601
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p34.1
Genomic location
1: 45331810 (GRCh38) GRCh38 UCSC
1: 45797482 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.45797482G>A
NM_001048171.1:c.995C>T NP_001041636.1:p.Ser332Leu missense
NM_001128425.1:c.1037C>T NP_001121897.1:p.Ser346Leu missense
... more HGVS
Protein change
S346L, S332L, S318L, S319L, S333L, S343L, S203L, S226L, S329L
Other names
-
Canonical SPDI
NC_000001.11:45331809:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA012017
dbSNP: rs587778538
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 29, 2020 RCV000123137.9
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jan 21, 2021 RCV000216934.5
Uncertain significance 2 criteria provided, single submitter May 26, 2020 RCV000121595.2
Uncertain significance 1 criteria provided, single submitter May 17, 2021 RCV001582593.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MUTYH - - GRCh38
GRCh37
1645 1750

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 25, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000275946.5
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.S346L variant (also known as c.1037C>T), located in coding exon 12 of the MUTYH gene, results from a C to T substitution at nucleotide … (more)
Uncertain significance
(Oct 29, 2020)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: germline
Invitae
Accession: SCV000166439.9
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces serine with leucine at codon 346 of the MUTYH protein (p.Ser346Leu). The serine residue is moderately conserved and there is a … (more)
Uncertain significance
(Apr 14, 2016)
criteria provided, single submitter
Method: clinical testing
MYH-associated polyposis
Allele origin: unknown
Counsyl
Accession: SCV000487349.1
Submitted: (Nov 23, 2016)
Evidence details
Publications
PubMed (3)
Uncertain significance
(May 26, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001370687.1
Submitted: (Jul 01, 2020)
Evidence details
Publications
PubMed (3)
Comment:
Variant summary: MUTYH c.1037C>T (p.Ser346Leu) results in a non-conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign … (more)
Uncertain significance
(Jan 21, 2021)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV001346480.2
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant replaces serine with leucine at codon 346 of the MUTYH protein. Computational prediction suggests that this variant may not impact protein structure … (more)
Uncertain significance
(May 17, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001818942.1
Submitted: (Sep 01, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 24728327, … (more)
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000085791.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

Functional evidence

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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.

Citations for this variant

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Title Author Journal Year Link
Germline mutation landscape of Chinese patients with familial breast/ovarian cancer in a panel of 22 susceptibility genes. Wang J Cancer medicine 2019 PMID: 30982232
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. Yurgelun MB Gastroenterology 2015 PMID: 25980754
Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. Tung N Cancer 2015 PMID: 25186627
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327

Text-mined citations for rs587778538...

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These 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 Oct 24, 2021