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NM_000179.3(MSH6):c.2377_2378delinsTT (p.Asp793Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 25, 2021
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:
RCV002457830.2

Allele description [Variation Report for NM_000179.3(MSH6):c.2377_2378delinsTT (p.Asp793Phe)]

NM_000179.3(MSH6):c.2377_2378delinsTT (p.Asp793Phe)

Gene:
MSH6:mutS homolog 6 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
2p16.3
Genomic location:
Preferred name:
NM_000179.3(MSH6):c.2377_2378delinsTT (p.Asp793Phe)
HGVS:
  • NC_000002.12:g.47800360_47800361delinsTT
  • NG_007111.1:g.22214_22215delinsTT
  • NM_000179.3:c.2377_2378delinsTTMANE SELECT
  • NM_001281492.2:c.1987_1988delinsTT
  • NM_001281493.2:c.1471_1472delinsTT
  • NM_001281494.2:c.1471_1472delinsTT
  • NM_001406795.1:c.2473_2474delGAinsTT
  • NM_001406796.1:c.2377_2378delGAinsTT
  • NM_001406797.1:c.2080_2081delGAinsTT
  • NM_001406798.1:c.2377_2378delGAinsTT
  • NM_001406799.1:c.1852_1853delGAinsTT
  • NM_001406800.1:c.2377_2378delGAinsTT
  • NM_001406801.1:c.2080_2081delGAinsTT
  • NM_001406802.1:c.2473_2474delGAinsTT
  • NM_001406804.1:c.2299_2300delGAinsTT
  • NM_001406805.1:c.2080_2081delGAinsTT
  • NM_001406806.1:c.1852_1853delGAinsTT
  • NM_001406807.1:c.1852_1853delGAinsTT
  • NM_001406808.1:c.2377_2378delGAinsTT
  • NM_001406809.1:c.2377_2378delGAinsTT
  • NM_001406811.1:c.1471_1472delGAinsTT
  • NM_001406812.1:c.1471_1472delGAinsTT
  • NM_001406813.1:c.2383_2384delGAinsTT
  • NM_001406814.1:c.1471_1472delGAinsTT
  • NM_001406815.1:c.1471_1472delGAinsTT
  • NM_001406816.1:c.1471_1472delGAinsTT
  • NM_001406818.1:c.2080_2081delGAinsTT
  • NM_001406819.1:c.2080_2081delGAinsTT
  • NM_001406820.1:c.2080_2081delGAinsTT
  • NM_001406821.1:c.2080_2081delGAinsTT
  • NM_001406822.1:c.2080_2081delGAinsTT
  • NM_001406823.1:c.1471_1472delGAinsTT
  • NM_001406824.1:c.2080_2081delGAinsTT
  • NM_001406825.1:c.2080_2081delGAinsTT
  • NM_001406826.1:c.2209_2210delGAinsTT
  • NM_001406827.1:c.2080_2081delGAinsTT
  • NM_001406828.1:c.2080_2081delGAinsTT
  • NM_001406829.1:c.1471_1472delGAinsTT
  • NM_001406830.1:c.2080_2081delGAinsTT
  • NP_000170.1:p.Asp793Phe
  • NP_000170.1:p.Asp793Phe
  • NP_001268421.1:p.Asp663Phe
  • NP_001268422.1:p.Asp491Phe
  • NP_001268423.1:p.Asp491Phe
  • NP_001393724.1:p.Asp825Phe
  • NP_001393725.1:p.Asp793Phe
  • NP_001393726.1:p.Asp694Phe
  • NP_001393727.1:p.Asp793Phe
  • NP_001393728.1:p.Asp618Phe
  • NP_001393729.1:p.Asp793Phe
  • NP_001393730.1:p.Asp694Phe
  • NP_001393731.1:p.Asp825Phe
  • NP_001393733.1:p.Asp767Phe
  • NP_001393734.1:p.Asp694Phe
  • NP_001393735.1:p.Asp618Phe
  • NP_001393736.1:p.Asp618Phe
  • NP_001393737.1:p.Asp793Phe
  • NP_001393738.1:p.Asp793Phe
  • NP_001393740.1:p.Asp491Phe
  • NP_001393741.1:p.Asp491Phe
  • NP_001393742.1:p.Asp795Phe
  • NP_001393743.1:p.Asp491Phe
  • NP_001393744.1:p.Asp491Phe
  • NP_001393745.1:p.Asp491Phe
  • NP_001393747.1:p.Asp694Phe
  • NP_001393748.1:p.Asp694Phe
  • NP_001393749.1:p.Asp694Phe
  • NP_001393750.1:p.Asp694Phe
  • NP_001393751.1:p.Asp694Phe
  • NP_001393752.1:p.Asp491Phe
  • NP_001393753.1:p.Asp694Phe
  • NP_001393754.1:p.Asp694Phe
  • NP_001393755.1:p.Asp737Phe
  • NP_001393756.1:p.Asp694Phe
  • NP_001393757.1:p.Asp694Phe
  • NP_001393758.1:p.Asp491Phe
  • NP_001393759.1:p.Asp694Phe
  • LRG_219t1:c.2377_2378delGAinsTT
  • LRG_219:g.22214_22215delinsTT
  • LRG_219p1:p.Asp793Phe
  • NC_000002.11:g.48027499_48027500delinsTT
  • NM_000179.2:c.2377_2378delGAinsTT
  • NR_176256.1:n.1239_1240delGAinsTT
  • NR_176257.1:n.2466_2467delGAinsTT
  • NR_176258.1:n.2466_2467delGAinsTT
  • NR_176259.1:n.2466_2467delGAinsTT
  • NR_176261.1:n.2466_2467delGAinsTT
Protein change:
D491F
Molecular consequence:
  • NM_000179.3:c.2377_2378delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281492.2:c.1987_1988delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281493.2:c.1471_1472delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001281494.2:c.1471_1472delinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406795.1:c.2473_2474delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406796.1:c.2377_2378delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406797.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406798.1:c.2377_2378delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406799.1:c.1852_1853delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406800.1:c.2377_2378delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406801.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406802.1:c.2473_2474delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406804.1:c.2299_2300delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406805.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406806.1:c.1852_1853delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406807.1:c.1852_1853delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406808.1:c.2377_2378delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406809.1:c.2377_2378delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406811.1:c.1471_1472delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406812.1:c.1471_1472delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406813.1:c.2383_2384delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406814.1:c.1471_1472delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406815.1:c.1471_1472delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406816.1:c.1471_1472delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406818.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406819.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406820.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406821.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406822.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406823.1:c.1471_1472delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406824.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406825.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406826.1:c.2209_2210delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406827.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406828.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406829.1:c.1471_1472delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001406830.1:c.2080_2081delGAinsTT - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002736997Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 25, 2021) 		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, SCV002736997.2

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

Description

The c.2377_2378delGAinsTT variant (also known as p.D793F), located in coding exon 4 of the MSH6 gene, results from an in-frame deletion of GA and insertion of TT at nucleotide positions 2377 to 2378. This results in the substitution of the aspartic acid residue for a phenylalanine residue at codon 793, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: May 1, 2024