NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln) AND 46,XY sex reversal 8

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000022968.3

Allele description [Variation Report for NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)]

NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)

Gene:
AKR1C2:aldo-keto reductase family 1 member C2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10p15.1
Genomic location:
Preferred name:
NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)
HGVS:
  • NC_000010.11:g.5000649A>C
  • NG_031852.1:g.22367T>G
  • NM_001135241.3:c.270T>G
  • NM_001321027.2:c.270T>G
  • NM_001354.5:c.270T>G
  • NM_001354.6:c.270T>G
  • NM_001393392.1:c.270T>GMANE SELECT
  • NM_205845.3:c.270T>G
  • NP_001128713.1:p.His90Gln
  • NP_001307956.1:p.His90Gln
  • NP_001345.1:p.His90Gln
  • NP_001345.1:p.His90Gln
  • NP_001380321.1:p.His90Gln
  • NP_995317.1:p.His90Gln
  • NC_000010.10:g.5042841A>C
  • P52895:p.His90Gln
Protein change:
H90Q; HIS90GLN
Links:
UniProtKB: P52895#VAR_066633; OMIM: 600450.0002; dbSNP: rs797044460
NCBI 1000 Genomes Browser:
rs797044460
Molecular consequence:
  • NM_001135241.3:c.270T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001321027.2:c.270T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354.5:c.270T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354.6:c.270T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001393392.1:c.270T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_205845.3:c.270T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
46,XY sex reversal 8 (SRXY8)
Synonyms:
MALE PSEUDOHERMAPHRODITISM DUE TO DEFICIENCY OF TESTICULAR 17,20-DESMOLASE; 46,XY SEX REVERSAL 8, MODIFIER OF
Identifiers:
Gene: 6994; MONDO: MONDO:0013664; MedGen: C1839840; OMIM: 614279

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000044259OMIMno assertion criteria providedPathogenic
(Aug 12, 2011)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.

Flück CE, Meyer-Böni M, Pandey AV, Kempná P, Miller WL, Schoenle EJ, Biason-Lauber A.

Am J Hum Genet. 2011 Aug 12;89(2):201-18. doi: 10.1016/j.ajhg.2011.06.009. Epub 2011 Jul 28. Erratum in: Am J Hum Genet. 2011 Aug 12;89(2):347.

PubMed [citation]
PMID:
21802064
PMCID:
PMC3155178

Details of each submission

From OMIM, SCV000044259.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the his90-to-gln (H90Q) mutation in the AKR1C2 gene that was found in compound heterozygous state in a family with 46,XY sex reversal (SRXY8; 614279) by Fluck et al. (2011), see 600450.0001.

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

Last Updated: Oct 30, 2021

Support Center