U.S. flag

An official website of the United States government

NM_000500.9(CYP21A2):c.1430T>C (p.Phe477Ser) AND CYP21A2-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 18, 2024
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV003951808.2

Allele description [Variation Report for NM_000500.9(CYP21A2):c.1430T>C (p.Phe477Ser)]

NM_000500.9(CYP21A2):c.1430T>C (p.Phe477Ser)

Genes:
LOC106780800:CYP21A2 recombination region [Gene]
CYP21A2:cytochrome P450 family 21 subfamily A member 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.33
Genomic location:
Preferred name:
NM_000500.9(CYP21A2):c.1430T>C (p.Phe477Ser)
HGVS:
  • NC_000006.12:g.32041076T>C
  • NG_007941.3:g.7772T>C
  • NG_008337.2:g.73299A>G
  • NG_045215.1:g.3305T>C
  • NM_000500.9:c.1430T>CMANE SELECT
  • NM_001128590.4:c.1340T>C
  • NM_001368143.2:c.1025T>C
  • NM_001368144.2:c.1025T>C
  • NP_000491.4:p.Phe477Ser
  • NP_001122062.3:p.Phe447Ser
  • NP_001355072.1:p.Phe342Ser
  • NP_001355073.1:p.Phe342Ser
  • LRG_829t1:c.1430T>C
  • LRG_829:g.7772T>C
  • LRG_829p1:p.Phe477Ser
  • NC_000006.11:g.32008853T>C
  • NM_000500.7:c.1430T>C
Protein change:
F342S
Molecular consequence:
  • NM_000500.9:c.1430T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001128590.4:c.1340T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368143.2:c.1025T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368144.2:c.1025T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
CYP21A2-related disorder
Synonyms:
CYP21A2-related condition
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004764258PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 18, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004764258.2

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

Description

The CYP21A2 c.1430T>C variant is predicted to result in the amino acid substitution p.Phe477Ser. To our knowledge, this variant has not been reported in the literature. The p.Phe477 residue is highly conserved during evolution. This variant is reported in 0.0011% of alleles in individuals of European (Non-Finnish) descent in gnomAD. This variant falls within a highly paralogous region. Allele frequency data should be interpreted with caution. Although we suspect this variant could be pathogenic, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 13, 2024