NM_001244008.2(KIF1A):c.961G>A (p.Gly321Ser) AND Hereditary spastic paraplegia 30

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jan 9, 2024
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:: RCV003886585.1

Allele description [Variation Report for NM_001244008.2(KIF1A):c.961G>A (p.Gly321Ser)]

NM_001244008.2(KIF1A):c.961G>A (p.Gly321Ser)

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.961G>A (p.Gly321Ser)

HGVS:

NC_000002.12:g.240774259C>T
NG_029724.1:g.50949G>A
NM_001244008.2:c.961G>AMANE SELECT
NM_001320705.2:c.961G>A
NM_001330289.2:c.961G>A
NM_001330290.2:c.961G>A
NM_001379631.1:c.961G>A
NM_001379632.1:c.961G>A
NM_001379633.1:c.961G>A
NM_001379634.1:c.961G>A
NM_001379635.1:c.961G>A
NM_001379636.1:c.961G>A
NM_001379637.1:c.961G>A
NM_001379638.1:c.961G>A
NM_001379639.1:c.961G>A
NM_001379640.1:c.961G>A
NM_001379641.1:c.961G>A
NM_001379642.1:c.961G>A
NM_001379645.1:c.961G>A
NM_001379646.1:c.961G>A
NM_001379648.1:c.961G>A
NM_001379649.1:c.961G>A
NM_001379650.1:c.961G>A
NM_001379651.1:c.961G>A
NM_001379653.1:c.961G>A
NM_001379654.1:c.961G>A
NM_004321.8:c.961G>A
NP_001230937.1:p.Gly321Ser
NP_001230937.1:p.Gly321Ser
NP_001307634.1:p.Gly321Ser
NP_001317218.1:p.Gly321Ser
NP_001317219.1:p.Gly321Ser
NP_001366560.1:p.Gly321Ser
NP_001366561.1:p.Gly321Ser
NP_001366562.1:p.Gly321Ser
NP_001366563.1:p.Gly321Ser
NP_001366564.1:p.Gly321Ser
NP_001366565.1:p.Gly321Ser
NP_001366566.1:p.Gly321Ser
NP_001366567.1:p.Gly321Ser
NP_001366568.1:p.Gly321Ser
NP_001366569.1:p.Gly321Ser
NP_001366570.1:p.Gly321Ser
NP_001366571.1:p.Gly321Ser
NP_001366574.1:p.Gly321Ser
NP_001366575.1:p.Gly321Ser
NP_001366577.1:p.Gly321Ser
NP_001366578.1:p.Gly321Ser
NP_001366579.1:p.Gly321Ser
NP_001366580.1:p.Gly321Ser
NP_001366582.1:p.Gly321Ser
NP_001366583.1:p.Gly321Ser
NP_004312.2:p.Gly321Ser
NP_004312.2:p.Gly321Ser
LRG_367t1:c.961G>A
LRG_367t2:c.961G>A
LRG_367:g.50949G>A
LRG_367p1:p.Gly321Ser
LRG_367p2:p.Gly321Ser
NC_000002.11:g.241713676C>T
NM_001244008.1:c.961G>A
NM_004321.7:c.961G>A

Protein change:

G321S

Molecular consequence:

NM_001244008.2:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001320705.2:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330289.2:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001330290.2:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379631.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379632.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379633.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379634.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379635.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379636.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379637.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379638.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379639.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379640.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379641.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379642.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379645.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379646.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379648.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379649.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379650.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379651.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379653.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001379654.1:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_004321.8:c.961G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hereditary spastic paraplegia 30
Synonyms:: Spastic paraplegia 30, autosomal recessive; SPASTIC PARAPLEGIA 30A, AUTOSOMAL DOMINANT
Identifiers:: MONDO: MONDO:0012476; MedGen: C5235139; Orphanet: 101010; OMIM: 610357

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004704569	Human Genetics Bochum, Ruhr University Bochum	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jan 9, 2024)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 34234304, 30778698, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004704569

Human Genetics Bochum, Ruhr University Bochum

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jan 9, 2024)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, et al.

Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7.

PubMed [citation]

PMID:: 34234304

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.

Elert-Dobkowska E, Stepniak I, Krysa W, Ziora-Jakutowicz K, Rakowicz M, Sobanska A, Pilch J, Antczak-Marach D, Zaremba J, Sulek A.

Neurogenetics. 2019 Mar;20(1):27-38. doi: 10.1007/s10048-019-00565-6. Epub 2019 Feb 19.

PubMed [citation]

PMID:: 30778698
PMCID:: PMC6411833

See all PubMed Citations (3)

Details of each submission

From Human Genetics Bochum, Ruhr University Bochum, SCV004704569.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

ACMG criteria used to clasify this variant: PP3_MOD, PS4_SUP, PM1_SUP, PM2_SUP, PM5_SUP

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

Last Updated: Sep 29, 2024

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