NM_205850.3(SLC24A5):c.781C>T (p.Gln261Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 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:: RCV002835039.3

Allele description [Variation Report for NM_205850.3(SLC24A5):c.781C>T (p.Gln261Ter)]

NM_205850.3(SLC24A5):c.781C>T (p.Gln261Ter)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

15q21.1

Genomic location:

Preferred name:

NM_205850.3(SLC24A5):c.781C>T (p.Gln261Ter)

HGVS:

NC_000015.10:g.48136873C>T
NG_011500.1:g.20902C>T
NM_001301210.2:c.*6035G>A
NM_016132.5:c.*6035G>AMANE SELECT
NM_205850.3:c.781C>TMANE SELECT
NP_995322.1:p.Gln261Ter
NC_000015.9:g.48429070C>T

Protein change:

Q261*

Molecular consequence:

NM_001301210.2:c.*6035G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_016132.5:c.*6035G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_205850.3:c.781C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003221851	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Aug 13, 2022)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 23985994, 26686029, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003221851

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Aug 13, 2022)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

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

SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism.

Morice-Picard F, Lasseaux E, François S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B.

J Invest Dermatol. 2014 Feb;134(2):568-571. doi: 10.1038/jid.2013.360. Epub 2013 Aug 28. No abstract available.

PubMed [citation]

PMID:: 23985994

Detection of the first OCA6 Italian patient in a large cohort of albino subjects.

Veniani E, Mauri L, Manfredini E, Gesu GP, Patrosso MC, Zelante L, D'Agruma L, Del Longo A, Mazza M, Piozzi E, Penco S, Primignani P.

J Dermatol Sci. 2016 Mar;81(3):208-9. doi: 10.1016/j.jdermsci.2015.11.012. Epub 2015 Nov 28. No abstract available.

PubMed [citation]

PMID:: 26686029

See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003221851.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has not been reported in the literature in individuals affected with SLC24A5-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln261*) in the SLC24A5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC24A5 are known to be pathogenic (PMID: 23985994, 26686029).

#	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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