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NM_001702.3(ADGRB1):c.1817G>A (p.Arg606His) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 4, 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:
RCV004376624.1

Allele description [Variation Report for NM_001702.3(ADGRB1):c.1817G>A (p.Arg606His)]

NM_001702.3(ADGRB1):c.1817G>A (p.Arg606His)

Gene:
ADGRB1:adhesion G protein-coupled receptor B1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
8q24.3
Genomic location:
Preferred name:
NM_001702.3(ADGRB1):c.1817G>A (p.Arg606His)
HGVS:
  • NC_000008.11:g.142479783G>A
  • NM_001391985.1:c.1808G>A
  • NM_001391986.1:c.1817G>A
  • NM_001702.3:c.1817G>AMANE SELECT
  • NP_001378914.1:p.Arg603His
  • NP_001378915.1:p.Arg606His
  • NP_001693.2:p.Arg606His
  • NC_000008.10:g.143561144G>A
  • NM_001702.2:c.1817G>A
Protein change:
R603H
Molecular consequence:
  • NM_001391985.1:c.1808G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001391986.1:c.1817G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001702.3:c.1817G>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
SCV004858325Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jan 4, 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, SCV004858325.1

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

Description

The c.1817G>A (p.R606H) alteration is located in exon 8 (coding exon 8) of the ADGRB1 gene. This alteration results from a G to A substitution at nucleotide position 1817, causing the arginine (R) at amino acid position 606 to be replaced by a histidine (H). 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: May 7, 2024