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NM_005022.4(PFN1):c.334C>T (p.Leu112=) AND Amyotrophic lateral sclerosis type 18

Germline classification:
Benign (1 submission)
Last evaluated:
Sep 5, 2021
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:
RCV001788126.2

Allele description [Variation Report for NM_005022.4(PFN1):c.334C>T (p.Leu112=)]

NM_005022.4(PFN1):c.334C>T (p.Leu112=)

Gene:
PFN1:profilin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.2
Genomic location:
Preferred name:
NM_005022.4(PFN1):c.334C>T (p.Leu112=)
HGVS:
  • NC_000017.11:g.4945989G>A
  • NG_012063.2:g.4899G>A
  • NG_032945.1:g.8098C>T
  • NM_001375991.1:c.*418C>T
  • NM_005022.4:c.334C>TMANE SELECT
  • NP_005013.1:p.Leu112=
  • NP_005013.1:p.Leu112=
  • NC_000017.10:g.4849284G>A
  • NM_005022.3:c.334C>T
Links:
dbSNP: rs13204
NCBI 1000 Genomes Browser:
rs13204
Molecular consequence:
  • NM_001375991.1:c.*418C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_005022.4:c.334C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Amyotrophic lateral sclerosis type 18
Identifiers:
MONDO: MONDO:0013891; MedGen: C3553719; Orphanet: 803; OMIM: 614808

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002029603Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Sep 5, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Genome-Nilou Lab, SCV002029603.1

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

Last Updated: Sep 29, 2024