NM_001909.5(CTSD):c.1137C>T (p.Ser379=) AND not specified

Clinical significance:Likely benign

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:
RCV000116851.4

Allele description [Variation Report for NM_001909.5(CTSD):c.1137C>T (p.Ser379=)]

NM_001909.5(CTSD):c.1137C>T (p.Ser379=)

Gene:
CTSD:cathepsin D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.5
Genomic location:
Preferred name:
NM_001909.5(CTSD):c.1137C>T (p.Ser379=)
HGVS:
  • NC_000011.10:g.1753605G>A
  • NG_008655.1:g.15388C>T
  • NM_001909.5:c.1137C>TMANE SELECT
  • NP_001900.1:p.Ser379=
  • NC_000011.9:g.1774835G>A
  • NM_001909.4:c.1137C>T
Links:
dbSNP: rs141981301
NCBI 1000 Genomes Browser:
rs141981301
Molecular consequence:
  • NM_001909.5:c.1137C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000150925Genetic Services Laboratory, University of Chicagono assertion criteria providedLikely benigngermlineclinical testing

Summary from all submissions

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

Details of each submission

From Genetic Services Laboratory, University of Chicago, SCV000150925.2

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

Description

Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated disease phenotype. NOT Sanger confirmed.

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

Last Updated: Oct 8, 2021

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