NM_001048174.2(MUTYH):c.194T>G (p.Val65Gly) AND Familial adenomatous polyposis 2

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 3, 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:: RCV003505894.2

Allele description [Variation Report for NM_001048174.2(MUTYH):c.194T>G (p.Val65Gly)]

NM_001048174.2(MUTYH):c.194T>G (p.Val65Gly)

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.194T>G (p.Val65Gly)

HGVS:

NC_000001.11:g.45333483A>C
NG_008189.1:g.11988T>G
NM_001048171.2:c.194T>G
NM_001048172.2:c.197T>G
NM_001048173.2:c.194T>G
NM_001048174.2:c.194T>GMANE SELECT
NM_001128425.2:c.278T>G
NM_001293190.2:c.239T>G
NM_001293191.2:c.227T>G
NM_001293192.2:c.-83T>G
NM_001293195.2:c.194T>G
NM_001293196.2:c.-83T>G
NM_001350650.2:c.-78T>G
NM_001350651.2:c.-78T>G
NM_001407069.1:c.269T>G
NM_001407070.1:c.194T>G
NM_001407071.1:c.197T>G
NM_001407072.1:c.194T>G
NM_001407073.1:c.236T>G
NM_001407075.1:c.110T>G
NM_001407077.1:c.227T>G
NM_001407078.1:c.197T>G
NM_001407079.1:c.197T>G
NM_001407080.1:c.194T>G
NM_001407081.1:c.194T>G
NM_001407082.1:c.-78T>G
NM_001407083.1:c.236T>G
NM_001407085.1:c.236T>G
NM_001407086.1:c.197T>G
NM_001407087.1:c.215T>G
NM_001407088.1:c.194T>G
NM_001407089.1:c.194T>G
NM_001407091.1:c.-83T>G
NM_012222.3:c.269T>G
NP_001041636.2:p.Val65Gly
NP_001041637.1:p.Val66Gly
NP_001041638.1:p.Val65Gly
NP_001041639.1:p.Val65Gly
NP_001121897.1:p.Val93Gly
NP_001121897.1:p.Val93Gly
NP_001280119.1:p.Val80Gly
NP_001280120.1:p.Val76Gly
NP_001280124.1:p.Val65Gly
NP_001393998.1:p.Val90Gly
NP_001393999.1:p.Val65Gly
NP_001394000.1:p.Val66Gly
NP_001394001.1:p.Val65Gly
NP_001394002.1:p.Val79Gly
NP_001394004.1:p.Val37Gly
NP_001394006.1:p.Val76Gly
NP_001394007.1:p.Val66Gly
NP_001394008.1:p.Val66Gly
NP_001394009.1:p.Val65Gly
NP_001394010.1:p.Val65Gly
NP_001394012.1:p.Val79Gly
NP_001394014.1:p.Val79Gly
NP_001394015.1:p.Val66Gly
NP_001394016.1:p.Val72Gly
NP_001394017.1:p.Val65Gly
NP_001394018.1:p.Val65Gly
NP_036354.1:p.Val90Gly
LRG_220t1:c.278T>G
LRG_220:g.11988T>G
LRG_220p1:p.Val93Gly
NC_000001.10:g.45799155A>C
NM_001128425.1:c.278T>G
NR_146882.2:n.422T>G
NR_146883.2:n.345T>G
NR_176269.1:n.418T>G
NR_176270.1:n.358T>G
NR_176271.1:n.281T>G
NR_176272.1:n.345T>G
NR_176273.1:n.345T>G
NR_176274.1:n.358T>G

Protein change:

V37G

Molecular consequence:

NM_001293192.2:c.-83T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001293196.2:c.-83T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350650.2:c.-78T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001350651.2:c.-78T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407082.1:c.-78T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407091.1:c.-83T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001048171.2:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048172.2:c.197T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048173.2:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001048174.2:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001128425.2:c.278T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293190.2:c.239T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293191.2:c.227T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001293195.2:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407069.1:c.269T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407070.1:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407071.1:c.197T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407072.1:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407073.1:c.236T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407075.1:c.110T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407077.1:c.227T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407078.1:c.197T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407079.1:c.197T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407080.1:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407081.1:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407083.1:c.236T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407085.1:c.236T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407086.1:c.197T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407087.1:c.215T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407088.1:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407089.1:c.194T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_012222.3:c.269T>G - missense variant - [Sequence Ontology: SO:0001583]
NR_146882.2:n.422T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146883.2:n.345T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176269.1:n.418T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176271.1:n.281T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176272.1:n.345T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176273.1:n.345T>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176274.1:n.358T>G - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004260859	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 3, 2024)	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

SCV004260859

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 3, 2024)

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, SCV004260859.1

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

Description

This sequence change replaces valine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 93 of the MUTYH protein (p.Val93Gly). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

#	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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