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NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 11, 2024
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:
RCV004525829.4

Allele description [Variation Report for NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)]

NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)

Gene:
MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_001048174.2(MUTYH):c.1219C>T (p.His407Tyr)
Other names:
p.H435Y:CAC>TAC
HGVS:
  • NC_000001.11:g.45331440G>A
  • NG_008189.1:g.14031C>T
  • NM_001048171.2:c.1219C>T
  • NM_001048172.2:c.1222C>T
  • NM_001048173.2:c.1219C>T
  • NM_001048174.2:c.1219C>TMANE SELECT
  • NM_001128425.2:c.1303C>T
  • NM_001293190.2:c.1264C>T
  • NM_001293191.2:c.1252C>T
  • NM_001293192.2:c.943C>T
  • NM_001293195.2:c.1219C>T
  • NM_001293196.2:c.943C>T
  • NM_001350650.2:c.874C>T
  • NM_001350651.2:c.874C>T
  • NM_012222.3:c.1294C>T
  • NP_001041636.1:p.His421Tyr
  • NP_001041636.2:p.His407Tyr
  • NP_001041637.1:p.His408Tyr
  • NP_001041638.1:p.His407Tyr
  • NP_001041639.1:p.His407Tyr
  • NP_001121897.1:p.His435Tyr
  • NP_001121897.1:p.His435Tyr
  • NP_001280119.1:p.His422Tyr
  • NP_001280120.1:p.His418Tyr
  • NP_001280121.1:p.His315Tyr
  • NP_001280124.1:p.His407Tyr
  • NP_001280125.1:p.His315Tyr
  • NP_001337579.1:p.His292Tyr
  • NP_001337580.1:p.His292Tyr
  • NP_036354.1:p.His432Tyr
  • LRG_220t1:c.1303C>T
  • LRG_220:g.14031C>T
  • LRG_220p1:p.His435Tyr
  • NC_000001.10:g.45797112G>A
  • NM_001048171.1:c.1261C>T
  • NM_001128425.1:c.1303C>T
  • NR_146882.2:n.1447C>T
  • NR_146883.2:n.1296C>T
  • p.H435Y
Protein change:
H292Y
Links:
dbSNP: rs141432759
NCBI 1000 Genomes Browser:
rs141432759
Molecular consequence:
  • NM_001048171.2:c.1219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048172.2:c.1222C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048173.2:c.1219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001048174.2:c.1219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128425.2:c.1303C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293190.2:c.1264C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293191.2:c.1252C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293192.2:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293195.2:c.1219C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001293196.2:c.943C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350650.2:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350651.2:c.874C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_012222.3:c.1294C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_146882.2:n.1447C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146883.2:n.1296C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000697665Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Uncertain significance
(Mar 11, 2024)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Summary from all submissions

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

Citations

PubMed

Hereditary cancer variants and homologous recombination deficiency in biliary tract cancer.

Okawa Y, Iwasaki Y, Johnson TA, Ebata N, Inai C, Endo M, Maejima K, Sasagawa S, Fujita M, Matsuda K, Murakami Y, Nakamura T, Hirano S, Momozawa Y, Nakagawa H.

J Hepatol. 2023 Feb;78(2):333-342. doi: 10.1016/j.jhep.2022.09.025. Epub 2022 Oct 13.

PubMed [citation]
PMID:
36243179

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV000697665.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

Variant summary: MUTYH c.1303C>T (p.His435Tyr) results in a conservative amino acid change located in the NUDIX hydrolase domain (IPR000086) of the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 2.4e-05 in 251338 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. Although reported as a VUS in settings of multigene panel testing for Biliary tract cancer (Okawa_2023), to our knowledge, no occurrence of c.1303C>T in individuals affected with MUTYH-Associated Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. The following publication has been ascertained in the context of this evaluation (PMID: 36243179). ClinVar contains an entry for this variant (Variation ID: 140816). Based on the evidence outlined above, the variant was classified as uncertain significance.

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

Last Updated: Sep 29, 2024