NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr) AND Disorders of Intracellular Cobalamin Metabolism

Germline classification:: not provided (1 submission)
Review status:: no classification provided

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:: RCV003060001.1

Allele description [Variation Report for NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr)]

NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr)

Gene:

HCFC1:host cell factor C1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq28

Genomic location:

Preferred name:

NM_005334.3(HCFC1):c.343G>A (p.Ala115Thr)

HGVS:

NC_000023.11:g.153964284C>T
NG_012513.1:g.12085G>A
NG_012513.2:g.12534G>A
NM_001410705.1:c.343G>A
NM_005334.3:c.343G>AMANE SELECT
NP_001397634.1:p.Ala115Thr
NP_005325.2:p.Ala115Thr
NC_000023.10:g.153229735C>T
NM_005334.2:c.343G>A

Protein change:

A115T

Molecular consequence:

NM_001410705.1:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_005334.3:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Disorders of Intracellular Cobalamin Metabolism
Identifiers:: MedGen: CN043592

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003354490	GeneReviews	no classification provided	not provided	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003354490

GeneReviews

no classification provided

not provided

germline

literature only

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	literature only

Citations

PubMed

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.

Yu HC, Sloan JL, Scharer G, Brebner A, Quintana AM, Achilly NP, Manoli I, Coughlin CR 2nd, Geiger EA, Schneck U, Watkins D, Suormala T, Van Hove JL, Fowler B, Baumgartner MR, Rosenblatt DS, Venditti CP, Shaikh TH.

Am J Hum Genet. 2013 Sep 5;93(3):506-14. doi: 10.1016/j.ajhg.2013.07.022.

PubMed [citation]

PMID:: 24011988
PMCID:: PMC3769968

Details of each submission

From GeneReviews, SCV003354490.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

#	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: Feb 13, 2023

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