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NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2020
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:
RCV002413921.2

Allele description [Variation Report for NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)]

NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)
HGVS:
  • NC_000002.12:g.47799922_47799931del
  • NG_007111.1:g.21776_21785del
  • NM_000179.3:c.1939_1948delMANE SELECT
  • NM_001281492.2:c.1549_1558del
  • NM_001281493.2:c.1033_1042del
  • NM_001281494.2:c.1033_1042del
  • NP_000170.1:p.Leu647fs
  • NP_001268421.1:p.Leu517fs
  • NP_001268422.1:p.Leu345fs
  • NP_001268423.1:p.Leu345fs
  • LRG_219t1:c.1939_1948del10
  • LRG_219:g.21776_21785del
  • NC_000002.11:g.48027060_48027069del
  • NC_000002.11:g.48027061_48027070del
  • NM_000179.2:c.1939_1948del10
Protein change:
L345fs
Links:
dbSNP: rs2104377567
NCBI 1000 Genomes Browser:
rs2104377567
Molecular consequence:
  • NM_000179.3:c.1939_1948del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281492.2:c.1549_1558del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281493.2:c.1033_1042del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001281494.2:c.1033_1042del - frameshift variant - [Sequence Ontology: SO:0001589]

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002722740Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Dec 2, 2020) 		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 Ambry Genetics, SCV002722740.2

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

Description

The c.1939_1948del10 pathogenic mutation, located in coding exon 4 of the MSH6 gene, results from a deletion of 10 nucleotides at nucleotide positions 1939 to 1948, causing a translational frameshift with a predicted alternate stop codon (p.L647Afs*4). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Oct 8, 2024