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NM_178861.5(RNF113B):c.231C>A (p.His77Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 15, 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:
RCV004274855.1

Allele description [Variation Report for NM_178861.5(RNF113B):c.231C>A (p.His77Gln)]

NM_178861.5(RNF113B):c.231C>A (p.His77Gln)

Genes:
FARP1:FERM, ARH/RhoGEF and pleckstrin domain protein 1 [Gene - OMIM - HGNC]
RNF113B:ring finger protein 113B [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
13q32.2
Genomic location:
Preferred name:
NM_178861.5(RNF113B):c.231C>A (p.His77Gln)
HGVS:
  • NC_000013.11:g.98177006G>T
  • NM_001001715.4:c.-24+33514G>T
  • NM_001286839.2:c.-24+34229G>T
  • NM_005766.4:c.-24+33514G>TMANE SELECT
  • NM_178861.5:c.231C>AMANE SELECT
  • NP_849192.1:p.His77Gln
  • NC_000013.10:g.98829260G>T
  • NM_178861.4:c.231C>A
Protein change:
H77Q
Molecular consequence:
  • NM_001001715.4:c.-24+33514G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001286839.2:c.-24+34229G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005766.4:c.-24+33514G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_178861.5:c.231C>A - 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
SCV003895378Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 15, 2023) 		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, SCV003895378.2

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

Description

The c.231C>A (p.H77Q) alteration is located in exon 1 (coding exon 1) of the RNF113B gene. This alteration results from a C to A substitution at nucleotide position 231, causing the histidine (H) at amino acid position 77 to be replaced by a glutamine (Q). 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: Nov 3, 2024