NM_002336.3(LRP6):c.4062G>C (p.Lys1354Asn) AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: Nov 23, 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:: RCV002958809.3

Allele description [Variation Report for NM_002336.3(LRP6):c.4062G>C (p.Lys1354Asn)]

NM_002336.3(LRP6):c.4062G>C (p.Lys1354Asn)

Gene:

LRP6:LDL receptor related protein 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.2

Genomic location:

Preferred name:

NM_002336.3(LRP6):c.4062G>C (p.Lys1354Asn)

HGVS:

NC_000012.12:g.12130802C>G
NG_016168.2:g.141076G>C
NM_001414244.1:c.4155G>C
NM_001414245.1:c.4062G>C
NM_001414246.1:c.3927G>C
NM_001414247.1:c.3864G>C
NM_001414248.1:c.4062G>C
NM_001414249.1:c.4062G>C
NM_001414250.1:c.4062G>C
NM_001414251.1:c.3699G>C
NM_001414252.1:c.3609G>C
NM_001414253.1:c.3609G>C
NM_001414254.1:c.3609G>C
NM_001414255.1:c.3555G>C
NM_002336.2:c.4062G>C
NM_002336.3:c.4062G>CMANE SELECT
NP_001401173.1:p.Lys1385Asn
NP_001401174.1:p.Lys1354Asn
NP_001401175.1:p.Lys1309Asn
NP_001401176.1:p.Lys1288Asn
NP_001401177.1:p.Lys1354Asn
NP_001401178.1:p.Lys1354Asn
NP_001401179.1:p.Lys1354Asn
NP_001401180.1:p.Lys1233Asn
NP_001401181.1:p.Lys1203Asn
NP_001401182.1:p.Lys1203Asn
NP_001401183.1:p.Lys1203Asn
NP_001401184.1:p.Lys1185Asn
NP_002327.2:p.Lys1354Asn
NC_000012.11:g.12283736C>G
NR_182264.1:n.4371G>C

Protein change:

K1185N

Molecular consequence:

NM_001414244.1:c.4155G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414245.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414246.1:c.3927G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414247.1:c.3864G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414248.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414249.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414250.1:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414251.1:c.3699G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414252.1:c.3609G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414253.1:c.3609G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414254.1:c.3609G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001414255.1:c.3555G>C - missense variant - [Sequence Ontology: SO:0001583]
NM_002336.3:c.4062G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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NADH dehydrogenase subunit 6 (mitochondrion) [Lamprologus congoensis]
NADH dehydrogenase subunit 6 (mitochondrion) [Lamprologus congoensis]
gi|2692962155|ref|YP_011061687.1|

Protein
Exidiopsis sp. RJB11821 18S ribosomal RNA gene, partial sequence; internal trans...
Exidiopsis sp. RJB11821 18S ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and 28S ribosomal RNA gene, partial sequence
gi|40846327|gb|AY509549.1|

Nucleotide
Human Prader-Willi/Angelman syndrome region mRNA
Human Prader-Willi/Angelman syndrome region mRNA
gi|438647|gb|L25446.1|HUMPAR2PA

Nucleotide
Shock, Cardiogenic
Shock, Cardiogenic
Shock resulting from diminution of cardiac output in heart disease.<br/>Year introduced: 1971

MeSH
Middle Lobe Syndrome
Middle Lobe Syndrome
Atelectasis of the right middle pulmonary lobe, with chronic pneumonitis. (Dorland, 27th ed)<br/>

MeSH

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003279343	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Nov 23, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003279343

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Nov 23, 2022)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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, SCV003279343.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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