U.S. flag

An official website of the United States government

NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro) AND Intellectual disability, autosomal dominant 9

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 15, 2020
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:
RCV001251231.1

Allele description [Variation Report for NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)]

NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)

Gene:
KIF1A:kinesin family member 1A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)
HGVS:
  • NC_000002.12:g.240774253A>G
  • NG_029724.1:g.50955T>C
  • NM_001244008.2:c.967T>CMANE SELECT
  • NM_001320705.2:c.967T>C
  • NM_001330289.2:c.967T>C
  • NM_001330290.2:c.967T>C
  • NM_001379631.1:c.967T>C
  • NM_001379632.1:c.967T>C
  • NM_001379633.1:c.967T>C
  • NM_001379634.1:c.967T>C
  • NM_001379635.1:c.967T>C
  • NM_001379636.1:c.967T>C
  • NM_001379637.1:c.967T>C
  • NM_001379638.1:c.967T>C
  • NM_001379639.1:c.967T>C
  • NM_001379640.1:c.967T>C
  • NM_001379641.1:c.967T>C
  • NM_001379642.1:c.967T>C
  • NM_001379645.1:c.967T>C
  • NM_001379646.1:c.967T>C
  • NM_001379648.1:c.967T>C
  • NM_001379649.1:c.967T>C
  • NM_001379650.1:c.967T>C
  • NM_001379651.1:c.967T>C
  • NM_001379653.1:c.967T>C
  • NM_004321.8:c.967T>C
  • NP_001230937.1:p.Ser323Pro
  • NP_001307634.1:p.Ser323Pro
  • NP_001317218.1:p.Ser323Pro
  • NP_001317219.1:p.Ser323Pro
  • NP_001366560.1:p.Ser323Pro
  • NP_001366561.1:p.Ser323Pro
  • NP_001366562.1:p.Ser323Pro
  • NP_001366563.1:p.Ser323Pro
  • NP_001366564.1:p.Ser323Pro
  • NP_001366565.1:p.Ser323Pro
  • NP_001366566.1:p.Ser323Pro
  • NP_001366567.1:p.Ser323Pro
  • NP_001366568.1:p.Ser323Pro
  • NP_001366569.1:p.Ser323Pro
  • NP_001366570.1:p.Ser323Pro
  • NP_001366571.1:p.Ser323Pro
  • NP_001366574.1:p.Ser323Pro
  • NP_001366575.1:p.Ser323Pro
  • NP_001366577.1:p.Ser323Pro
  • NP_001366578.1:p.Ser323Pro
  • NP_001366579.1:p.Ser323Pro
  • NP_001366580.1:p.Ser323Pro
  • NP_001366582.1:p.Ser323Pro
  • NP_004312.2:p.Ser323Pro
  • LRG_367t2:c.967T>C
  • LRG_367:g.50955T>C
  • NC_000002.11:g.241713670A>G
  • NM_004321.7:c.967T>C
Protein change:
S323P
Links:
dbSNP: rs2052422975
NCBI 1000 Genomes Browser:
rs2052422975
Molecular consequence:
  • NM_001244008.2:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001320705.2:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330289.2:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330290.2:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379631.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379632.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379633.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379634.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379635.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379636.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379637.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379638.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379639.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379640.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379641.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379642.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379645.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379646.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379648.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379649.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379650.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379651.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001379653.1:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004321.8:c.967T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Intellectual disability, autosomal dominant 9 (NESCAVS)
Synonyms:
Mental retardation, autosomal dominant 9; NESCAV SYNDROME
Identifiers:
MONDO: MONDO:0013656; MedGen: C5393830; OMIM: 614255

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001426730SIB Swiss Institute of Bioinformatics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jun 15, 2020) 		unknowncuration

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement.

Nemani T, Steel D, Kaliakatsos M, DeVile C, Ververi A, Scott R, Getov S, Sudhakar S, Male A, Mankad K; Genomics England Research Consortium, Muntoni F, Reilly MM, Kurian MA, Carr L, Munot P.

J Peripher Nerv Syst. 2020 Jun;25(2):117-124. doi: 10.1111/jns.12368. Epub 2020 Mar 6.

PubMed [citation]
PMID:
32096284

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 SIB Swiss Institute of Bioinformatics, SCV001426730.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

This variant is interpreted as likely pathogenic for NESCAV syndrome, autosomal dominant. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium (PM2); Assumed de novo, but no confirmation of paternity and maternity (PM6); Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2); Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).

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

Last Updated: Aug 18, 2024