U.S. flag

An official website of the United States government

NM_173076.3(ABCA12):c.1462C>T (p.Leu488=) AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 25, 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:
RCV002265735.1

Allele description [Variation Report for NM_173076.3(ABCA12):c.1462C>T (p.Leu488=)]

NM_173076.3(ABCA12):c.1462C>T (p.Leu488=)

Gene:
ABCA12:ATP binding cassette subfamily A member 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_173076.3(ABCA12):c.1462C>T (p.Leu488=)
HGVS:
  • NC_000002.12:g.215019622G>A
  • NG_007074.1:g.123806C>T
  • NM_015657.4:c.508C>T
  • NM_173076.3:c.1462C>TMANE SELECT
  • NP_056472.2:p.Leu170=
  • NP_775099.2:p.Leu488=
  • NC_000002.11:g.215884346G>A
  • NM_173076.2:c.1462C>T
  • NR_103740.2:n.1904C>T
Links:
dbSNP: rs574023538
NCBI 1000 Genomes Browser:
rs574023538
Molecular consequence:
  • NR_103740.2:n.1904C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NM_015657.4:c.508C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_173076.3:c.1462C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002547718Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)
Likely benign
(May 25, 2022)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002547718.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024