U.S. flag

An official website of the United States government

NM_016180.5(SLC45A2):c.1048del (p.Asp350fs) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 10, 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:
RCV003672605.2

Allele description [Variation Report for NM_016180.5(SLC45A2):c.1048del (p.Asp350fs)]

NM_016180.5(SLC45A2):c.1048del (p.Asp350fs)

Gene:
SLC45A2:solute carrier family 45 member 2 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_016180.5(SLC45A2):c.1048del (p.Asp350fs)
HGVS:
  • NC_000005.10:g.33951665del
  • NG_011691.2:g.38014del
  • NG_011691.3:g.38031del
  • NM_001012509.4:c.1048del
  • NM_001297417.4:c.722del
  • NM_016180.5:c.1048delMANE SELECT
  • NP_001012527.2:p.Asp350fs
  • NP_001284346.2:p.Gly241fs
  • NP_057264.4:p.Asp350fs
  • NC_000005.9:g.33951767del
  • NC_000005.9:g.33951770del
Protein change:
D350fs
Molecular consequence:
  • NM_001012509.4:c.1048del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001297417.4:c.722del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_016180.5:c.1048del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004390104Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Feb 10, 2023) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Implementation of an optimized strategy for genetic testing of the Chinese patients with oculocutaneous albinism.

Wei A, Yang X, Lian S, Li W.

J Dermatol Sci. 2011 May;62(2):124-7. doi: 10.1016/j.jdermsci.2011.02.009. Epub 2011 Mar 5.

PubMed [citation]
PMID:
21458243

Genetic analyses of oculocutaneous albinism types 2 and 4 with eight novel mutations.

Okamura K, Araki Y, Abe Y, Shigyou A, Fujiyama T, Baba A, Kanekura T, Chinen Y, Kono M, Niizeki H, Tsubota A, Konno T, Hozumi Y, Suzuki T.

J Dermatol Sci. 2016 Feb;81(2):140-2. doi: 10.1016/j.jdermsci.2015.10.014. Epub 2015 Oct 31. No abstract available.

PubMed [citation]
PMID:
26573111
See all PubMed Citations (3)

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV004390104.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

This sequence change creates a premature translational stop signal (p.Asp350Ilefs*48) in the SLC45A2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SLC45A2 are known to be pathogenic (PMID: 21458243, 26573111). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SLC45A2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Sep 29, 2024