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NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) AND Inborn genetic diseases

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 8, 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:
RCV002312189.9

Allele description [Variation Report for NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)]

NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)

Gene:
NHLRC1:NHL repeat containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p22.3
Genomic location:
Preferred name:
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu)
Other names:
p.P111L:CCC>CTC
HGVS:
  • NC_000006.12:g.18122275G>A
  • NG_016750.1:g.5346C>T
  • NM_198586.3:c.332C>TMANE SELECT
  • NP_940988.2:p.Pro111Leu
  • NP_940988.2:p.Pro111Leu
  • NC_000006.11:g.18122506G>A
  • NM_198586.2:c.332C>T
  • Q6VVB1:p.Pro111Leu
Protein change:
P111L
Links:
UniProtKB: Q6VVB1#VAR_019486; dbSNP: rs10949483
NCBI 1000 Genomes Browser:
rs10949483
Molecular consequence:
  • NM_198586.3:c.332C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000845989Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jan 8, 2016) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

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

Citations

PubMed

Clinical and genetic findings in 26 Italian patients with Lafora disease.

Franceschetti S, Gambardella A, Canafoglia L, Striano P, Lohi H, Gennaro E, Ianzano L, Veggiotti P, Sofia V, Biondi R, Striano S, Gellera C, Annesi G, Madia F, Civitelli D, Rocca FE, Quattrone A, Avanzini G, Minassian B, Zara F.

Epilepsia. 2006 Mar;47(3):640-3.

PubMed [citation]
PMID:
16529633

Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Lupski JR, Gonzaga-Jauregui C, Yang Y, Bainbridge MN, Jhangiani S, Buhay CJ, Kovar CL, Wang M, Hawes AC, Reid JG, Eng C, Muzny DM, Gibbs RA.

Genome Med. 2013;5(6):57. doi: 10.1186/gm461.

PubMed [citation]
PMID:
23806086
PMCID:
PMC3706849

Details of each submission

From Ambry Genetics, SCV000845989.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Jun 9, 2024