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NM_000179.3(MSH6):c.2340C>T (p.Ala780=) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely benign (1 submission)
Last evaluated:
Nov 10, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003160781.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2340C>T (p.Ala780=)]

NM_000179.3(MSH6):c.2340C>T (p.Ala780=)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2340C>T (p.Ala780=)
HGVS:
  • NC_000002.12:g.47800323C>T
  • NG_007111.1:g.22177C>T
  • NM_000179.2:c.2340C>T
  • NM_000179.3:c.2340C>TMANE SELECT
  • NM_001281492.2:c.1950C>T
  • NM_001281493.2:c.1434C>T
  • NM_001281494.2:c.1434C>T
  • NP_000170.1:p.Ala780=
  • NP_001268421.1:p.Ala650=
  • NP_001268422.1:p.Ala478=
  • NP_001268423.1:p.Ala478=
  • LRG_219t1:c.2340C>T
  • LRG_219:g.22177C>T
  • NC_000002.11:g.48027462C>T
Links:
dbSNP: rs2104401672
NCBI 1000 Genomes Browser:
rs2104401672
Molecular consequence:
  • NM_000179.3:c.2340C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281492.2:c.1950C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281493.2:c.1434C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001281494.2:c.1434C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003867108Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Nov 10, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV003867108.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024