U.S. flag

An official website of the United States government

NM_001377960.1(RBM12B):c.1432G>A (p.Ala478Thr) AND Inborn genetic diseases

Germline classification:
Uncertain significance (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:
RCV002683790.1

Allele description [Variation Report for NM_001377960.1(RBM12B):c.1432G>A (p.Ala478Thr)]

NM_001377960.1(RBM12B):c.1432G>A (p.Ala478Thr)

Gene:
RBM12B:RNA binding motif protein 12B [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q22.1
Genomic location:
Preferred name:
NM_001377960.1(RBM12B):c.1432G>A (p.Ala478Thr)
HGVS:
  • NC_000008.11:g.93734979C>T
  • NM_001377960.1:c.1432G>AMANE SELECT
  • NM_001377961.1:c.1432G>A
  • NM_001377962.1:c.1432G>A
  • NM_001377963.1:c.1432G>A
  • NM_001377964.1:c.1432G>A
  • NM_203390.4:c.1432G>A
  • NP_001364889.1:p.Ala478Thr
  • NP_001364890.1:p.Ala478Thr
  • NP_001364891.1:p.Ala478Thr
  • NP_001364892.1:p.Ala478Thr
  • NP_001364893.1:p.Ala478Thr
  • NP_976324.2:p.Ala478Thr
  • NC_000008.10:g.94747207C>T
  • NM_203390.2:c.1432G>A
Protein change:
A478T
Molecular consequence:
  • NM_001377960.1:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377961.1:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377962.1:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377963.1:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001377964.1:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_203390.4:c.1432G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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
SCV003554763Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Uncertain significance
(May 25, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV003554763.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.1432G>A (p.A478T) alteration is located in exon 3 (coding exon 1) of the RBM12B gene. This alteration results from a G to A substitution at nucleotide position 1432, causing the alanine (A) at amino acid position 478 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Feb 13, 2023