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NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 30, 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:
RCV000699085.7

Allele description [Variation Report for NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)]

NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)

Genes:
LRP4:LDL receptor related protein 4 [Gene - OMIM - HGNC]
LRP4-AS1:LRP4 antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p11.2
Genomic location:
Preferred name:
NM_002334.4(LRP4):c.5672C>T (p.Thr1891Met)
Other names:
p.Thr1891Met
HGVS:
  • NC_000011.10:g.46859029G>A
  • NG_021394.1:g.64594C>T
  • NM_002334.4:c.5672C>TMANE SELECT
  • NP_002325.2:p.Thr1891Met
  • NC_000011.9:g.46880580G>A
  • NM_002334.3:c.5672C>T
Protein change:
T1891M
Links:
dbSNP: rs372637156
NCBI 1000 Genomes Browser:
rs372637156
Molecular consequence:
  • NM_002334.4:c.5672C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cenani-Lenz syndactyly syndrome
Synonyms:
SYNDACTYLY, TYPE VII; Syndactyly Cenani Lenz type; Cenani syndactylism; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008931; MedGen: C1859309; Orphanet: 3258; OMIM: 212780
Name:
Sclerosteosis 2 (SOST2)
Identifiers:
MONDO: MONDO:0013679; MedGen: C3280402; Orphanet: 3152; OMIM: 614305
Name:
Congenital myasthenic syndrome 17
Identifiers:
MONDO: MONDO:0014578; MedGen: C4225377; Orphanet: 590; OMIM: 616304

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000827780Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jul 30, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV000827780.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1891 of the LRP4 protein (p.Thr1891Met). This variant is present in population databases (rs372637156, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with LRP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 304844). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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

Last Updated: Nov 24, 2024