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NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 6, 2011)
Last evaluated:
Aug 12, 2011
Accession:
VCV000030064.1
Variation ID:
30064
Description:
single nucleotide variant
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NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val)

Allele ID
39019
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p15.1
Genomic location
10: 5001531 (GRCh38) GRCh38 UCSC
10: 5043723 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P52895:p.Ile79Val
NC_000010.10:g.5043723T>C
NC_000010.11:g.5001531T>C
... more HGVS
Protein change
I79V
Other names
-
Canonical SPDI
NC_000010.11:5001530:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA128905
UniProtKB: P52895#VAR_066632
OMIM: 600450.0001
dbSNP: rs387906750
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 12, 2011 RCV000022967.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AKR1C2 - - GRCh38
GRCh37
60 102

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 12, 2011)
no assertion criteria provided
Method: literature only
46,XY SEX REVERSAL 8
Allele origin: germline
OMIM
Accession: SCV000044258.1
Submitted: (Oct 06, 2011)
Evidence details
Publications
PubMed (2)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Fl├╝ck CE American journal of human genetics 2011 PMID: 21802064
Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. Zachmann M Clinical endocrinology 1972 PMID: 4352099

Text-mined citations for rs387906750...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 24, 2021