NM_001198800.3(ASCC1):c.157dup (p.Glu53fs) AND See cases

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Sep 15, 2021
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001420207.2

Allele description [Variation Report for NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)]

NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)

Gene:

ASCC1:activating signal cointegrator 1 complex subunit 1 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)

HGVS:

NC_000010.11:g.72210788dup
NG_031890.1:g.11348dup
NM_001198798.2:c.157dup
NM_001198799.3:c.157dup
NM_001198800.3:c.157dupMANE SELECT
NM_001369085.1:c.223dup
NM_001369086.1:c.223dup
NM_001369087.1:c.157dup
NM_001369088.1:c.157dup
NM_001369089.1:c.157dup
NM_001369090.1:c.157dup
NM_001369091.1:c.157dup
NM_001369092.1:c.157dup
NM_001369093.1:c.157dup
NM_001369094.1:c.157dup
NM_001369095.1:c.157dup
NM_001369096.1:c.157dup
NM_001369097.1:c.157dup
NM_001369098.1:c.157dup
NM_001369099.1:c.223dup
NM_001369100.1:c.157dup
NM_001369101.1:c.40dup
NM_001369102.1:c.40dup
NM_001369103.1:c.157dup
NM_001369104.1:c.157dup
NM_001369105.1:c.40dup
NM_001369106.1:c.40dup
NM_001369107.1:c.40dup
NM_001369108.1:c.157dup
NM_001369109.1:c.157dup
NM_001369110.1:c.157dup
NM_001369111.1:c.157dup
NM_001369112.1:c.157dup
NP_001185727.1:p.Glu53fs
NP_001185728.1:p.Glu53fs
NP_001185729.1:p.Glu53fs
NP_001356014.1:p.Glu75fs
NP_001356015.1:p.Glu75fs
NP_001356016.1:p.Glu53fs
NP_001356017.1:p.Glu53fs
NP_001356018.1:p.Glu53fs
NP_001356019.1:p.Glu53fs
NP_001356020.1:p.Glu53fs
NP_001356021.1:p.Glu53fs
NP_001356022.1:p.Glu53fs
NP_001356023.1:p.Glu53fs
NP_001356024.1:p.Glu53fs
NP_001356025.1:p.Glu53fs
NP_001356026.1:p.Glu53fs
NP_001356027.1:p.Glu53fs
NP_001356028.1:p.Glu75fs
NP_001356029.1:p.Glu53fs
NP_001356030.1:p.Glu14fs
NP_001356031.1:p.Glu14fs
NP_001356032.1:p.Glu53fs
NP_001356033.1:p.Glu53fs
NP_001356034.1:p.Glu14fs
NP_001356035.1:p.Glu14fs
NP_001356036.1:p.Glu14fs
NP_001356037.1:p.Glu53fs
NP_001356038.1:p.Glu53fs
NP_001356039.1:p.Glu53fs
NP_001356040.1:p.Glu53fs
NP_001356041.1:p.Glu53fs
NC_000010.10:g.73970544_73970545insC
NC_000010.10:g.73970546dup
NM_001198800.2:c.157dup
NM_001198800.2:c.157dupG
NR_045564.1:n.504dup

Protein change:

E14fs

Links:

OMIM: 614215.0002; dbSNP: rs753324947

NCBI 1000 Genomes Browser:

rs753324947

Molecular consequence:

NM_001198798.2:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001198799.3:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001198800.3:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369085.1:c.223dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369086.1:c.223dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369087.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369088.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369089.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369090.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369091.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369092.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369093.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369094.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369095.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369096.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369097.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369098.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369099.1:c.223dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369100.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369101.1:c.40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369102.1:c.40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369103.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369104.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369105.1:c.40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369106.1:c.40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369107.1:c.40dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369108.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369109.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369110.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369111.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001369112.1:c.157dup - frameshift variant - [Sequence Ontology: SO:0001589]
NR_045564.1:n.504dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001622627	Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli	criteria provided, single submitter (Parc Tauli Hospital Assertion Criteria 2021)	Pathogenic (Apr 26, 2021)	inherited	clinical testing	Citation Link,
SCV003843217	Equipe Genetique des Anomalies du Developpement, Université de Bourgogne	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 15, 2021)	biparental	clinical testing	PubMed (2) [See all records that cite these PMIDs] 33931933, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001622627

Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli

criteria provided, single submitter

(Parc Tauli Hospital Assertion Criteria 2021)

Pathogenic
(Apr 26, 2021)

inherited

clinical testing

Citation Link,

SCV003843217

Equipe Genetique des Anomalies du Developpement, Université de Bourgogne

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 15, 2021)

biparental

clinical testing

PubMed (2)
[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	inherited	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	biparental	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Biallelic ASCC1 variants including a novel intronic variant result in expanded phenotypic spectrum of spinal muscular atrophy with congenital bone fractures 2 (SMABF2).

Rosano KK, Wegner DJ, Shinawi M, Baldridge D, Bucelli RC, Dahiya S, White FV, Willing MC, McAllister W, Taft RJ, Bluske K, Buchanan A, Cole FS, Wambach JA.

Am J Med Genet A. 2021 Jul;185(7):2190-2197. doi: 10.1002/ajmg.a.62219. Epub 2021 May 1.

PubMed [citation]

PMID:: 33931933
PMCID:: PMC8725206

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 Genetics Laboratory, UDIAT-Centre Diagnòstic, Hospital Universitari Parc Tauli, SCV001622627.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

Description

PVS1_very strong;PM3_supporting;PP5_supporting

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

From Equipe Genetique des Anomalies du Developpement, Université de Bourgogne, SCV003843217.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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

Last Updated: May 26, 2024

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