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NM_001291284.2(CYB561D2):c.250C>T (p.Arg84Cys) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 6, 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:
RCV004367649.1

Allele description [Variation Report for NM_001291284.2(CYB561D2):c.250C>T (p.Arg84Cys)]

NM_001291284.2(CYB561D2):c.250C>T (p.Arg84Cys)

Genes:
LOC127898564:CYB561D2-LOC101928965 [Gene]
CYB561D2:cytochrome b561 family member D2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_001291284.2(CYB561D2):c.250C>T (p.Arg84Cys)
HGVS:
  • NC_000003.12:g.50353325C>T
  • NM_001291284.2:c.250C>TMANE SELECT
  • NM_001414705.1:c.250C>T
  • NM_001414706.1:c.250C>T
  • NM_001414707.1:c.250C>T
  • NM_001414708.1:c.250C>T
  • NM_001414709.1:c.250C>T
  • NM_001414710.1:c.250C>T
  • NM_001414711.1:c.250C>T
  • NM_001414712.1:c.73C>T
  • NM_001414713.1:c.73C>T
  • NM_001414714.1:c.73C>T
  • NM_007022.5:c.250C>T
  • NP_001278213.1:p.Arg84Cys
  • NP_001401634.1:p.Arg84Cys
  • NP_001401635.1:p.Arg84Cys
  • NP_001401636.1:p.Arg84Cys
  • NP_001401637.1:p.Arg84Cys
  • NP_001401638.1:p.Arg84Cys
  • NP_001401639.1:p.Arg84Cys
  • NP_001401640.1:p.Arg84Cys
  • NP_001401641.1:p.Arg25Cys
  • NP_001401642.1:p.Arg25Cys
  • NP_001401643.1:p.Arg25Cys
  • NP_008953.1:p.Arg84Cys
  • NC_000003.11:g.50390756C>T
  • NM_007022.3:c.250C>T
Protein change:
R25C
Molecular consequence:
  • NM_001291284.2:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414705.1:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414706.1:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414707.1:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414708.1:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414709.1:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414710.1:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414711.1:c.250C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414712.1:c.73C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414713.1:c.73C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001414714.1:c.73C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007022.5:c.250C>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
SCV004855366Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Oct 6, 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, SCV004855366.1

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

Description

The c.250C>T (p.R84C) alteration is located in exon 4 (coding exon 3) of the CYB561D2 gene. This alteration results from a C to T substitution at nucleotide position 250, causing the arginine (R) at amino acid position 84 to be replaced by a cysteine (C). 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: Sep 1, 2024