NM_003977.4(AIP):c.620C>T (p.Ala207Val) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 16, 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:: RCV003095602.3

Allele description [Variation Report for NM_003977.4(AIP):c.620C>T (p.Ala207Val)]

NM_003977.4(AIP):c.620C>T (p.Ala207Val)

Gene:

AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_003977.4(AIP):c.620C>T (p.Ala207Val)

HGVS:

NC_000011.10:g.67490189C>T
NG_008969.1:g.12156C>T
NM_001302959.2:c.443C>T
NM_001302960.2:c.620C>T
NM_003977.4:c.620C>TMANE SELECT
NP_001289888.1:p.Ala148Val
NP_001289889.1:p.Ala207Val
NP_003968.2:p.Ala207Val
NP_003968.3:p.Ala207Val
LRG_460t1:c.620C>T
LRG_460:g.12156C>T
LRG_460p1:p.Ala207Val
NC_000011.9:g.67257660C>T
NM_003977.2:c.620C>T

Protein change:

A148V

Molecular consequence:

NM_001302959.2:c.443C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001302960.2:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_003977.4:c.620C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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PREDICTED: Sus scrofa family with sequence similarity 131 member C (FAM131C), tr...
PREDICTED: Sus scrofa family with sequence similarity 131 member C (FAM131C), transcript variant X2, mRNA
gi|1191888638|ref|XM_005665034.3|

Nucleotide
methylenetetrahydrofolate reductase isoform X2 [Sus scrofa]
methylenetetrahydrofolate reductase isoform X2 [Sus scrofa]
gi|1191888481|ref|XP_020951002.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003486424	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Mar 16, 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

SCV003486424

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Mar 16, 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, SCV003486424.2

#	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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AIP-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 207 of the AIP protein (p.Ala207Val).

#	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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