NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) AND Acrocallosal syndrome

Clinical significance:Conflicting interpretations of pathogenicity, Benign(1);Likely benign(1);Pathogenic(1) (Last evaluated: Nov 17, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000201541.4

Allele description [Variation Report for NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)]

NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)

Gene:
KIF7:kinesin family member 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q26.1
Genomic location:
Preferred name:
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)
HGVS:
  • NC_000015.10:g.89631625T>C
  • NG_030338.1:g.28827A>G
  • NM_198525.3:c.2981A>GMANE SELECT
  • NP_940927.2:p.Gln994Arg
  • NC_000015.9:g.90174856T>C
  • NM_198525.2:c.2981A>G
  • Q2M1P5:p.Gln994Arg
Protein change:
Q994R
Links:
UniProtKB: Q2M1P5#VAR_066455; dbSNP: rs138410949
NCBI 1000 Genomes Browser:
rs138410949
Molecular consequence:
  • NM_198525.3:c.2981A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acrocallosal syndrome (ACLS)
Synonyms:
HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM; Acrocallosal syndrome, Schinzel type; Schinzel syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0008708; MedGen: C0796147; Orphanet: 36; OMIM: 200990

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000256440UW Hindbrain Malformation Research Program,University of Washington

See additional submitters

criteria provided, single submitter
Pathogenic
(Feb 23, 2015)
unknownresearch

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

SCV001020715Invitaecriteria provided, single submitter
Likely benign
(Nov 17, 2020)
germlineclinical testing

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

SCV001280350Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 27, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Citations

PubMed

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]
PMID:
26092869
PMCID:
PMC5082428

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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818
See all PubMed Citations (3)

Details of each submission

From UW Hindbrain Malformation Research Program,University of Washington, SCV000256440.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From Invitae, SCV001020715.3

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

From Illumina Clinical Services Laboratory,Illumina, SCV001280350.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Aug 17, 2021

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