NM_006214.4(PHYH):c.827A>C (p.Lys276Thr) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 13, 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:: RCV001345934.7

Allele description [Variation Report for NM_006214.4(PHYH):c.827A>C (p.Lys276Thr)]

NM_006214.4(PHYH):c.827A>C (p.Lys276Thr)

Gene:

PHYH:phytanoyl-CoA 2-hydroxylase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p13

Genomic location:

Preferred name:

NM_006214.4(PHYH):c.827A>C (p.Lys276Thr)

HGVS:

NC_000010.11:g.13283691T>G
NG_012862.1:g.21440A>C
NM_001037537.2:c.527A>C
NM_001323080.2:c.527A>C
NM_001323082.2:c.833A>C
NM_001323083.2:c.563A>C
NM_001323084.2:c.533A>C
NM_006214.4:c.827A>CMANE SELECT
NP_001032626.1:p.Lys176Thr
NP_001310009.1:p.Lys176Thr
NP_001310011.1:p.Lys278Thr
NP_001310012.1:p.Lys188Thr
NP_001310013.1:p.Lys178Thr
NP_006205.1:p.Lys276Thr
NC_000010.10:g.13325691T>G

Protein change:

K176T

Links:

dbSNP: rs1454371975

NCBI 1000 Genomes Browser:

rs1454371975

Molecular consequence:

NM_001037537.2:c.527A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001323080.2:c.527A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001323082.2:c.833A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001323083.2:c.563A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001323084.2:c.533A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_006214.4:c.827A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Chain E, Ras-related GTP-binding protein C
Chain E, Ras-related GTP-binding protein C
gi|2367144292|pdb|7UXC|E

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001540082	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 13, 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

SCV001540082

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 13, 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, SCV001540082.4

#	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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1042043). This variant has not been reported in the literature in individuals affected with PHYH-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.008%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 276 of the PHYH protein (p.Lys276Thr).

#	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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