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NM_000313.4(PROS1):c.*370G>A AND Thrombophilia due to protein S deficiency, autosomal dominant

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000311808.5

Allele description [Variation Report for NM_000313.4(PROS1):c.*370G>A]

NM_000313.4(PROS1):c.*370G>A

Gene:
PROS1:protein S [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3q11.1
Genomic location:
Preferred name:
NM_000313.4(PROS1):c.*370G>A
HGVS:
  • NC_000003.12:g.93873875C>T
  • NG_009813.1:g.105216G>A
  • NM_000313.4:c.*370G>AMANE SELECT
  • NM_001314077.2:c.*370G>A
  • LRG_572t1:c.*370G>A
  • LRG_572:g.105216G>A
  • NC_000003.11:g.93592719C>T
  • NM_000313.3:c.*370G>A
Links:
dbSNP: rs144135580
NCBI 1000 Genomes Browser:
rs144135580
Molecular consequence:
  • NM_000313.4:c.*370G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001314077.2:c.*370G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Name:
Thrombophilia due to protein S deficiency, autosomal dominant (THPH5)
Identifiers:
MONDO: MONDO:0012868; MedGen: C3278211; Orphanet: 743; OMIM: 612336

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000446530Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)		Uncertain significance
(Jun 14, 2016) 		germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000446530.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023