NM_001048174.2(MUTYH):c.914C>T (p.Ala305Val) AND Familial adenomatous polyposis 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 25, 2022
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:: RCV001298855.7

Allele description [Variation Report for NM_001048174.2(MUTYH):c.914C>T (p.Ala305Val)]

NM_001048174.2(MUTYH):c.914C>T (p.Ala305Val)

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.914C>T (p.Ala305Val)

HGVS:

NC_000001.11:g.45331849G>A
NG_008189.1:g.13622C>T
NM_001048171.2:c.914C>T
NM_001048172.2:c.917C>T
NM_001048173.2:c.914C>T
NM_001048174.2:c.914C>TMANE SELECT
NM_001128425.2:c.998C>T
NM_001293190.2:c.959C>T
NM_001293191.2:c.947C>T
NM_001293192.2:c.638C>T
NM_001293195.2:c.914C>T
NM_001293196.2:c.638C>T
NM_001350650.2:c.569C>T
NM_001350651.2:c.569C>T
NM_012222.3:c.989C>T
NP_001041636.2:p.Ala305Val
NP_001041637.1:p.Ala306Val
NP_001041638.1:p.Ala305Val
NP_001041639.1:p.Ala305Val
NP_001121897.1:p.Ala333Val
NP_001280119.1:p.Ala320Val
NP_001280120.1:p.Ala316Val
NP_001280121.1:p.Ala213Val
NP_001280124.1:p.Ala305Val
NP_001280125.1:p.Ala213Val
NP_001337579.1:p.Ala190Val
NP_001337580.1:p.Ala190Val
NP_036354.1:p.Ala330Val
LRG_220t1:c.998C>T
LRG_220:g.13622C>T
NC_000001.10:g.45797521G>A
NM_001128425.1:c.998C>T
NR_146882.2:n.1142C>T
NR_146883.2:n.991C>T

Protein change:

A190V

Links:

dbSNP: rs1374768333

NCBI 1000 Genomes Browser:

rs1374768333

Molecular consequence:

NM_001048171.2:c.914C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.917C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.914C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.914C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.998C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.959C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.947C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293192.2:c.638C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.914C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001293196.2:c.638C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001350650.2:c.569C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001350651.2:c.569C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.989C>T - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.1142C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.991C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Familial adenomatous polyposis 2
Synonyms:: COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; MYH-associated polyposis; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012041; MedGen: C3272841; Orphanet: 220460; OMIM: 608456

Recent activity

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Mus musculus RIKEN cDNA 1700063I17 gene, mRNA (cDNA clone MGC:58774 IMAGE:677219...
Mus musculus RIKEN cDNA 1700063I17 gene, mRNA (cDNA clone MGC:58774 IMAGE:6772199), complete cds
gi|28913726|gb|BC048642.1|

Nucleotide
Taxonomy Links for Nucleotide (Select 1890272222) (1)
Taxonomy
phospholipid transfer protein isoform c precursor [Homo sapiens]
phospholipid transfer protein isoform c precursor [Homo sapiens]
gi|339275807|ref|NP_001229849.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001487926	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Apr 25, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001487926

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Apr 25, 2022)

germline

clinical testing

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

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001487926.4

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

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 333 of the MUTYH protein (p.Ala333Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MUTYH-related conditions. ClinVar contains an entry for this variant (Variation ID: 1002430). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.

#	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: Sep 29, 2024

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