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NM_000044.6(AR):c.1174C>T (p.Pro392Ser) AND Hypospadias 1, X-linked

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 31, 2018
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:
RCV000627669.9

Allele description [Variation Report for NM_000044.6(AR):c.1174C>T (p.Pro392Ser)]

NM_000044.6(AR):c.1174C>T (p.Pro392Ser)

Gene:
AR:androgen receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
HGVS:
  • NC_000023.11:g.67546320C>T
  • NG_009014.2:g.7289C>T
  • NM_000044.6:c.1174C>TMANE SELECT
  • NM_001011645.3:c.-610C>T
  • NM_001348061.1:c.1174C>T
  • NM_001348063.1:c.1174C>T
  • NM_001348064.1:c.1174C>T
  • NP_000035.2:p.Pro392Ser
  • NP_001334990.1:p.Pro392Ser
  • NP_001334992.1:p.Pro392Ser
  • NP_001334993.1:p.Pro392Ser
  • LRG_1406t1:c.1174C>T
  • LRG_1406:g.7289C>T
  • LRG_1406p1:p.Pro392Ser
  • NC_000023.10:g.66766162C>T
  • NM_000044.3:c.1174C>T
  • NM_000044.4:c.1174C>T
  • P10275:p.Pro392Ser
  • p.P392S
Protein change:
P392S
Links:
UniProtKB: P10275#VAR_009227; dbSNP: rs201934623
NCBI 1000 Genomes Browser:
rs201934623
Molecular consequence:
  • NM_001011645.3:c.-610C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000044.6:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348061.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348063.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348064.1:c.1174C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hypospadias 1, X-linked (HYSP1)
Identifiers:
MONDO: MONDO:0010384; MedGen: C2678098; Orphanet: 440; OMIM: 300633

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000746022Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
no assertion criteria provided
Uncertain significance
(Jan 31, 2018) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Gujarati Hindugermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV000746022.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Gujarati Hindu1not providednot providedclinical testingnot provided

Description

The observed variant c.1174C>T (p.P392S) has the minor allele frequency of 0.74% in 1000 Genomes and 0.8% in ExAC databases. The in silico predictions of the variant is polymorphism by Mutation Taster, benign by PolyPhen and damaging by SIFT.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024