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NM_020407.5(RHBG):c.1141G>C (p.Glu381Gln) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 17, 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:
RCV004234688.1

Allele description [Variation Report for NM_020407.5(RHBG):c.1141G>C (p.Glu381Gln)]

NM_020407.5(RHBG):c.1141G>C (p.Glu381Gln)

Gene:
RHBG:Rh family B glycoprotein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_020407.5(RHBG):c.1141G>C (p.Glu381Gln)
HGVS:
  • NC_000001.11:g.156382776G>C
  • NM_001256395.2:c.934G>C
  • NM_001256396.2:c.1051G>C
  • NM_001412175.1:c.1141G>C
  • NM_001412176.1:c.934G>C
  • NM_001412177.1:c.1051G>C
  • NM_020407.5:c.1141G>CMANE SELECT
  • NP_001243324.1:p.Glu312Gln
  • NP_001243325.1:p.Glu351Gln
  • NP_001399104.1:p.Glu381Gln
  • NP_001399105.1:p.Glu312Gln
  • NP_001399106.1:p.Glu351Gln
  • NP_065140.3:p.Glu381Gln
  • NC_000001.10:g.156352567G>C
  • NM_020407.3:c.1141G>C
  • NR_026549.1:n.1302G>C
  • NR_046115.2:n.1317G>C
  • NR_146763.2:n.2026G>C
  • NR_146764.2:n.1303G>C
  • NR_146765.2:n.1303G>C
Protein change:
E312Q
Molecular consequence:
  • NM_001256395.2:c.934G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001256396.2:c.1051G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001412175.1:c.1141G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001412176.1:c.934G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001412177.1:c.1051G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_020407.5:c.1141G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NR_046115.2:n.1317G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146763.2:n.2026G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146764.2:n.1303G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_146765.2:n.1303G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV003751743Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Feb 17, 2022) 		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, SCV003751743.2

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

Description

The c.1141G>C (p.E381Q) alteration is located in exon 8 (coding exon 8) of the RHBG gene. This alteration results from a G to C substitution at nucleotide position 1141, causing the glutamic acid (E) at amino acid position 381 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 10, 2024