NM_003140.2(SRY):c.364_367delGAGA (p.Glu122Asnfs)

Variation ID: Help
9737
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 1, 1992
Number of submission(s):
1
Condition(s):
46,XY sex reversal, type 1[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_003140.2(SRY):c.364_367delGAGA (p.Glu122Asnfs)

Allele ID:
24776
Variant type:
Deletion
Cytogenetic location:
Yp11.2
Genomic location:
  • ChrY: 2787237 - 2787240 (on Assembly GRCh38)
  • ChrY: 2655278 - 2655281 (on Assembly GRCh37)
HGVS:
  • NG_011751.1:g.5512_5515delGAGA
  • NM_003140.2:c.364_367delGAGA
  • NP_003131.1:p.Glu122Asnfs
  • NC_000024.10:g.2787237_2787240delTCTC (GRCh38)
  • NC_000024.9:g.2655278_2655281delTCTC (GRCh37)
Note:
NCBI staff reviewed the sequence information reported in PubMed 2247151 Fig. 2 to determine the location of this deletion on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs606231178
Molecular consequence:
NM_003140.2:c.364_367delGAGA: frameshift variant [Sequence Ontology SO:0001589]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Feb 1, 1992)
no assertion criteria providedliterature onlygermlineOMIMSCV000030616.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: May 12, 2017