U.S. flag

An official website of the United States government

NM_000179.3(MSH6):c.2385A>G (p.Ile795Met) AND Lynch syndrome 5

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 11, 2023
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:
RCV003153819.1

Allele description [Variation Report for NM_000179.3(MSH6):c.2385A>G (p.Ile795Met)]

NM_000179.3(MSH6):c.2385A>G (p.Ile795Met)

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.2385A>G (p.Ile795Met)
HGVS:
  • NC_000002.12:g.47800368A>G
  • NG_007111.1:g.22222A>G
  • NM_000179.3:c.2385A>GMANE SELECT
  • NM_001281492.2:c.1995A>G
  • NM_001281493.2:c.1479A>G
  • NM_001281494.2:c.1479A>G
  • NP_000170.1:p.Ile795Met
  • NP_000170.1:p.Ile795Met
  • NP_001268421.1:p.Ile665Met
  • NP_001268422.1:p.Ile493Met
  • NP_001268423.1:p.Ile493Met
  • LRG_219t1:c.2385A>G
  • LRG_219:g.22222A>G
  • LRG_219p1:p.Ile795Met
  • NC_000002.11:g.48027507A>G
  • NM_000179.2:c.2385A>G
Protein change:
I493M
Links:
dbSNP: rs1558665293
NCBI 1000 Genomes Browser:
rs1558665293
Molecular consequence:
  • NM_000179.3:c.2385A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.1995A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1479A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1479A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lynch syndrome 5 (LYNCH5)
Synonyms:
Colorectal cancer, hereditary nonpolyposis, type 5; Hereditary non-polyposis colorectal cancer, type 5
Identifiers:
MONDO: MONDO:0013710; MedGen: C1833477; Orphanet: 144; OMIM: 614350

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003842995St. Jude Molecular Pathology, St. Jude Children's Research Hospital
criteria provided, single submitter

(St. Jude Assertion Criteria 2020)		Uncertain significance
(Jan 11, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From St. Jude Molecular Pathology, St. Jude Children's Research Hospital, SCV003842995.1

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

Description

The MSH6 c.2385A>G (p.Ile795Met) missense change is absent in gnomAD v2.1.1 (https://gnomad.broadinstitute.org/). The in silico tool REVEL is inconclusive about a pathogenic or benign effect of this variant on protein function, and to our knowledge functional studies have not been performed. To our knowledge, this variant has not been reported in individuals with Lynch syndrome or constitutional mismatch repair deficiency. In summary, the evidence currently available is insufficient to determine the clinical significance of this variant. It has therefore been classified as of uncertain significance.

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

Last Updated: Oct 8, 2024