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NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) AND not specified

Germline classification:
Benign/Likely benign (2 submissions)
Last evaluated:
Apr 10, 2017
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000324004.6

Allele description [Variation Report for NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)]

NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)

Genes:
HSPG2:heparan sulfate proteoglycan 2 [Gene - OMIM - HGNC]
LDLRAD2:low density lipoprotein receptor class A domain containing 2 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
HGVS:
  • NC_000001.11:g.21823637C>T
  • NG_016740.1:g.118621G>A
  • NM_001013693.3:c.*1422C>TMANE SELECT
  • NM_001291860.2:c.12985G>A
  • NM_005529.7:c.12982G>AMANE SELECT
  • NP_001278789.1:p.Ala4329Thr
  • NP_005520.4:p.Ala4328Thr
  • NC_000001.10:g.22150130C>T
  • NM_005529.5:c.12982G>A
  • NM_005529.6:c.12982G>A
Protein change:
A4328T
Links:
dbSNP: rs114015043
NCBI 1000 Genomes Browser:
rs114015043
Molecular consequence:
  • NM_001013693.3:c.*1422C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001291860.2:c.12985G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005529.7:c.12982G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000334681Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Likely benign
(Sep 24, 2015) 		germlineclinical testing

Citation Link,

SCV000613703Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Apr 10, 2017) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Citations

PubMed

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Eurofins Ntd Llc (ga), SCV000334681.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From Athena Diagnostics, SCV000613703.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 26, 2024