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NM_000684.3(ADRB1):c.1198C>T (p.Arg400Trp) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 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:
RCV004330423.1

Allele description [Variation Report for NM_000684.3(ADRB1):c.1198C>T (p.Arg400Trp)]

NM_000684.3(ADRB1):c.1198C>T (p.Arg400Trp)

Gene:
ADRB1:adrenoceptor beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q25.3
Genomic location:
Preferred name:
NM_000684.3(ADRB1):c.1198C>T (p.Arg400Trp)
HGVS:
  • NC_000010.11:g.114045330C>T
  • NG_012187.1:g.6284C>T
  • NM_000684.3:c.1198C>TMANE SELECT
  • NP_000675.1:p.Arg400Trp
  • NC_000010.10:g.115805089C>T
  • NM_000684.2:c.1198C>T
Protein change:
R400W
Molecular consequence:
  • NM_000684.3:c.1198C>T - 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
SCV004001304Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 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, SCV004001304.2

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

Description

The c.1198C>T (p.R400W) alteration is located in exon 1 (coding exon 1) of the ADRB1 gene. This alteration results from a C to T substitution at nucleotide position 1198, causing the arginine (R) at amino acid position 400 to be replaced by a tryptophan (W). 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