NM_205850.3(SLC24A5):c.641del (p.Leu214fs) AND SLC24A5-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 26, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:: RCV004758029.1

Allele description [Variation Report for NM_205850.3(SLC24A5):c.641del (p.Leu214fs)]

NM_205850.3(SLC24A5):c.641del (p.Leu214fs)

Genes:

MYEF2:myelin expression factor 2 [Gene - OMIM - HGNC]
SLC24A5:solute carrier family 24 member 5 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_205850.3(SLC24A5):c.641del (p.Leu214fs)

HGVS:

NC_000015.10:g.48136733del
NG_011500.1:g.20762del
NM_001301210.2:c.*6175del
NM_016132.5:c.*6175delMANE SELECT
NM_205850.2:c.641delT
NM_205850.3:c.641delMANE SELECT
NP_995322.1:p.Leu214fs
NC_000015.9:g.48428930del
NM_205850.2:c.641del

Protein change:

L214fs

Links:

OMIM: 609802.0005; dbSNP: rs772398324

NCBI 1000 Genomes Browser:

rs772398324

Molecular consequence:

NM_001301210.2:c.*6175del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_016132.5:c.*6175del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_205850.3:c.641del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: SLC24A5-related disorder
Synonyms:: SLC24A5-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005367001	PreventionGenetics, part of Exact Sciences	no assertion criteria provided	Pathogenic (Jul 26, 2024)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005367001

PreventionGenetics, part of Exact Sciences

no assertion criteria provided

Pathogenic
(Jul 26, 2024)

germline

clinical testing

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005367001.1

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

Description

The SLC24A5 c.641delT variant is predicted to result in a frameshift and premature protein termination (p.Leu214Argfs*12). This variant has been reported in the homozygous state in individuals with oculocutaneous albinism (Morice-Picard et al. 2014. PubMed ID: 23985994). This variant is reported in 0.0087% of alleles in individuals of Latino descent in gnomAD. Frameshift variants in SLC24A5 are expected to be pathogenic. This variant is interpreted as pathogenic.

#	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: Oct 13, 2024

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