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NM_014698.3(TMEM63A):c.1861A>T (p.Ile621Phe) AND Inborn genetic diseases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jun 27, 2023
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:
RCV003354901.2

Allele description [Variation Report for NM_014698.3(TMEM63A):c.1861A>T (p.Ile621Phe)]

NM_014698.3(TMEM63A):c.1861A>T (p.Ile621Phe)

Gene:
TMEM63A:transmembrane protein 63A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.12
Genomic location:
Preferred name:
NM_014698.3(TMEM63A):c.1861A>T (p.Ile621Phe)
HGVS:
  • NC_000001.11:g.225852706T>A
  • NM_014698.3:c.1861A>TMANE SELECT
  • NP_055513.2:p.Ile621Phe
  • NC_000001.10:g.226040407T>A
  • NM_014698.2:c.1861A>T
Protein change:
I621F
Molecular consequence:
  • NM_014698.3:c.1861A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004072108Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jun 27, 2023) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV004072108.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024