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NM_002332.3(LRP1):c.300C>T (p.Asp100=) AND not specified

Germline classification:
Benign (1 submission)
Last evaluated:
May 4, 2022
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:
RCV002249779.1

Allele description [Variation Report for NM_002332.3(LRP1):c.300C>T (p.Asp100=)]

NM_002332.3(LRP1):c.300C>T (p.Asp100=)

Gene:
LRP1:LDL receptor related protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.3
Genomic location:
Preferred name:
NM_002332.3(LRP1):c.300C>T (p.Asp100=)
HGVS:
  • NC_000012.12:g.57141483C>T
  • NG_016444.1:g.17985C>T
  • NM_002332.3:c.300C>TMANE SELECT
  • NP_002323.2:p.Asp100=
  • NC_000012.11:g.57535266C>T
  • NM_002332.2:c.300C>T
Links:
dbSNP: rs1799986
NCBI 1000 Genomes Browser:
rs1799986
Molecular consequence:
  • NM_002332.3:c.300C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002518634Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2019)		Benign
(May 4, 2022) 		germlineclinical testing

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 Mendelics, SCV002518634.1

#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: Mar 16, 2024