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NM_020336.4(RALGAPB):c.2876T>C (p.Leu959Pro) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 21, 2024
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:
RCV004669530.1

Allele description [Variation Report for NM_020336.4(RALGAPB):c.2876T>C (p.Leu959Pro)]

NM_020336.4(RALGAPB):c.2876T>C (p.Leu959Pro)

Gene:
RALGAPB:Ral GTPase activating protein non-catalytic subunit beta [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q11.23
Genomic location:
Preferred name:
NM_020336.4(RALGAPB):c.2876T>C (p.Leu959Pro)
HGVS:
  • NC_000020.11:g.38546404T>C
  • NM_001282917.2:c.2876T>C
  • NM_001282918.2:c.2864T>C
  • NM_020336.4:c.2876T>CMANE SELECT
  • NP_001269846.1:p.Leu959Pro
  • NP_001269847.1:p.Leu955Pro
  • NP_065069.1:p.Leu959Pro
  • NC_000020.10:g.37175047T>C
  • NM_020336.2:c.2876T>C
Protein change:
L955P
Molecular consequence:
  • NM_001282917.2:c.2876T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282918.2:c.2864T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020336.4:c.2876T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005163625Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 21, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV005163625.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.2876T>C (p.L959P) alteration is located in exon 19 (coding exon 18) of the RALGAPB gene. This alteration results from a T to C substitution at nucleotide position 2876, causing the leucine (L) at amino acid position 959 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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

Last Updated: Aug 11, 2024