NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val) AND not specified

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 4, 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:: RCV001260346.1

Allele description [Variation Report for NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)]

NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)

Gene:

MUTYH:mutY DNA glycosylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.1

Genomic location:

Preferred name:

NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val)

HGVS:

NC_000001.11:g.45334510G>A
NG_008189.1:g.10961C>T
NM_001048171.2:c.-5C>T
NM_001048172.2:c.-5C>T
NM_001048173.2:c.-5C>T
NM_001048174.2:c.-5C>TMANE SELECT
NM_001128425.2:c.38C>T
NM_001293190.2:c.38C>T
NM_001293191.2:c.-5C>T
NM_001293192.2:c.-217C>T
NM_001293195.2:c.-5C>T
NM_001293196.2:c.-217C>T
NM_001350650.2:c.-276C>T
NM_001350651.2:c.-212C>T
NM_012222.3:c.38C>T
NP_001041636.1:p.Ala13Val
NP_001121897.1:p.Ala13Val
NP_001121897.1:p.Ala13Val
NP_001280119.1:p.Ala13Val
NP_036354.1:p.Ala13Val
LRG_220t1:c.38C>T
LRG_220:g.10961C>T
LRG_220p1:p.Ala13Val
NC_000001.10:g.45800182G>A
NM_001048171.1:c.38C>T
NM_001128425.1:c.38C>T
NR_146882.2:n.224C>T
NR_146883.2:n.147C>T
p.A13V

Protein change:

A13V

Links:

dbSNP: rs587780747

NCBI 1000 Genomes Browser:

rs587780747

Molecular consequence:

NM_001048171.2:c.-5C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001048172.2:c.-5C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001048173.2:c.-5C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001048174.2:c.-5C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001293191.2:c.-5C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001293192.2:c.-217C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001293195.2:c.-5C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001293196.2:c.-217C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350650.2:c.-276C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350651.2:c.-212C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001128425.2:c.38C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.38C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.38C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.224C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.147C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001437279	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Uncertain significance (Sep 4, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001437279

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Uncertain significance
(Sep 4, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001437279.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Variant summary: MUTYH c.38C>T (p.Ala13Val) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. 4/4 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 1.2e-05 in 251466 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.38C>T in individuals affected with MUTYH-Associated Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Six clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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