NM_005105.5(RBM8A):c.152G>C (p.Arg51Pro) AND Inborn genetic diseases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 16, 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:: RCV003210350.2

Allele description [Variation Report for NM_005105.5(RBM8A):c.152G>C (p.Arg51Pro)]

NM_005105.5(RBM8A):c.152G>C (p.Arg51Pro)

Genes:

LIX1L-AS1:LIX1L antisense RNA 1 [Gene - HGNC]
LOC126805851:MED14-independent group 3 enhancer GRCh37_chr1:145507474-145508673 [Gene]
RBM8A:RNA binding motif protein 8A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q21.1

Genomic location:

Preferred name:

NM_005105.5(RBM8A):c.152G>C (p.Arg51Pro)

HGVS:

NC_000001.11:g.145926862C>G
NG_032654.2:g.5675G>C
NG_082175.1:g.543C>G
NG_082175.2:g.543C>G
NM_005105.5:c.152G>CMANE SELECT
NP_005096.1:p.Arg51Pro
NP_005096.1:p.Arg51Pro
LRG_574t1:c.152G>C
LRG_574:g.5675G>C
LRG_574p1:p.Arg51Pro
NC_000001.10:g.145508231G>C
NM_005105.3:c.152G>C
NM_005105.4:c.152G>C
NR_147182.1:n.32C>G

Protein change:

R51P

Molecular consequence:

NM_005105.5:c.152G>C - missense variant - [Sequence Ontology: SO:0001583]
NR_147182.1:n.32C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

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

Recent activity

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bone marrow stromal antigen 2 [Trachypithecus francoisi]
bone marrow stromal antigen 2 [Trachypithecus francoisi]
gi|1825943378|ref|XP_033055920.1|

Protein
protein FAM13C isoform X2 [Mus musculus]
protein FAM13C isoform X2 [Mus musculus]
gi|1720362306|ref|XP_030101145.1|

Protein
PREDICTED: Sparus aurata catalase (cat), transcript variant X2, mRNA
PREDICTED: Sparus aurata catalase (cat), transcript variant X2, mRNA
gi|1724763997|ref|XM_030425175.1|

Nucleotide
AT-rich interactive domain-containing protein 1B isoform X2 [Mus musculus]
AT-rich interactive domain-containing protein 1B isoform X2 [Mus musculus]
gi|568997990|ref|XP_006523286.1|

Protein
Salvelinus taranetzi isolate TRMP95_246 cytochrome oxidase subunit I (COXI) gene...
Salvelinus taranetzi isolate TRMP95_246 cytochrome oxidase subunit I (COXI) gene, partial cds; mitochondrial
gi|1151052534|gb|KY122137.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003904258	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Feb 16, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003904258

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Feb 16, 2023)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV003904258.2

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

Description

The c.152G>C (p.R51P) alteration is located in exon 3 (coding exon 3) of the RBM8A gene. This alteration results from a G to C substitution at nucleotide position 152, causing the arginine (R) at amino acid position 51 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

#	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 1, 2024

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