NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr) AND multiple conditions

Germline classification:: Likely pathogenic (1 submission)
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:: RCV004796878.1

Allele description [Variation Report for NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)]

NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)

Gene:

SLC45A2:solute carrier family 45 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.2

Genomic location:

Preferred name:

NM_016180.5(SLC45A2):c.1456G>A (p.Ala486Thr)

HGVS:

NC_000005.10:g.33944785C>T
NG_011691.2:g.44891G>A
NG_011691.3:g.44908G>A
NG_104672.1:g.653C>T
NG_104673.1:g.152C>T
NM_016180.5:c.1456G>AMANE SELECT
NP_057264.4:p.Ala486Thr
NC_000005.9:g.33944890C>T
NM_016180.4:c.1456G>A

Protein change:

A486T

Molecular consequence:

NM_016180.5:c.1456G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: SKIN/HAIR/EYE PIGMENTATION 5, BLACK/NONBLACK HAIR (SHEP5)
Synonyms:: SKIN/HAIR/EYE PIGMENTATION 5, DARK/FAIR SKIN; SKIN/HAIR/EYE PIGMENTATION 5, DARK/LIGHT EYES; Skin/hair/eye pigmentation, variation in, 5
Identifiers:: MedGen: C2673584; OMIM: 227240

Name:: Oculocutaneous albinism type 4 (OCA4)
Synonyms:: Albinism, oculocutaneous, type IV
Identifiers:: MONDO: MONDO:0011683; MedGen: C1847836; Orphanet: 79435; OMIM: 606574

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005418838	Juno Genomics, Hangzhou Juno Genomics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005418838

Juno Genomics, Hangzhou Juno Genomics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic

germline

clinical testing

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	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Juno Genomics, Hangzhou Juno Genomics, Inc, SCV005418838.1

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

Description

PM2_Supporting+PP3_Moderate+PM5_Supporting+PM3_Supporting+PP4

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 7, 2024

ClinVar

Relating variation to medicine