NM_001020658.2(PUM1):c.213dup (p.Ala72fs) AND Spinocerebellar ataxia 47

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 7, 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:: RCV002272738.2

Allele description [Variation Report for NM_001020658.2(PUM1):c.213dup (p.Ala72fs)]

NM_001020658.2(PUM1):c.213dup (p.Ala72fs)

Gene:

PUM1:pumilio RNA binding family member 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

1p35.2

Genomic location:

Preferred name:

NM_001020658.2(PUM1):c.213dup (p.Ala72fs)

HGVS:

NC_000001.11:g.31059355dup
NM_001020658.2:c.213dupMANE SELECT
NM_014676.3:c.213dup
NP_001018494.1:p.Ala72fs
NP_055491.1:p.Ala72fs
NC_000001.10:g.31532202dup
NM_001020658.1:c.213dupT

Protein change:

A72fs

Links:

dbSNP: rs2124008285

Molecular consequence:

NM_001020658.2:c.213dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_014676.3:c.213dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Spinocerebellar ataxia 47 (NEDMSF)
Synonyms:: PADDAS SYNDROME
Identifiers:: MONDO: MONDO:0033482; MedGen: C4693672; OMIM: 620719

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002556862	Genetics and Molecular Pathology, SA Pathology See additional submitters Shariant Australia, Australian Genomics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 7, 2020)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 29474920, 31859446, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002556862

Genetics and Molecular Pathology, SA Pathology

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 7, 2020)

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

A Mild PUM1 Mutation Is Associated with Adult-Onset Ataxia, whereas Haploinsufficiency Causes Developmental Delay and Seizures.

Gennarino VA, Palmer EE, McDonell LM, Wang L, Adamski CJ, Koire A, See L, Chen CA, Schaaf CP, Rosenfeld JA, Panzer JA, Moog U, Hao S, Bye A, Kirk EP, Stankiewicz P, Breman AM, McBride A, Kandula T, Dubbs HA, Macintosh R, Cardamone M, et al.

Cell. 2018 Feb 22;172(5):924-936.e11. doi: 10.1016/j.cell.2018.02.006.

PubMed [citation]

PMID:: 29474920
PMCID:: PMC5832058

PUM1 haploinsufficiency is associated with syndromic neurodevelopmental delay and epilepsy.

Voet J, Ceulemans B, Kooy F, Meuwissen MEC.

Am J Med Genet A. 2020 Mar;182(3):591-594. doi: 10.1002/ajmg.a.61463. Epub 2019 Dec 20. No abstract available.

PubMed [citation]

PMID:: 31859446

See all PubMed Citations (3)

Details of each submission

From Genetics and Molecular Pathology, SA Pathology, SCV002556862.2

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

Description

A de novo novel heterozygous frameshift variant was detected in the PUM1 gene. Pathogenic PUM1 mutations have been associated with neurodevelopmental disorders and seizures (PMID: 31859446; PMID: 29474920). Alternate transcript isoforms have been described for PUM1; this variant is in exon 2 of transcript NM_001020658.1 and expressed in multiple tissues.

#	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: Jul 13, 2025

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