NM_001286704.2(UFM1):c.-273_-271del AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (3 submissions)
Last evaluated:: Nov 1, 2022
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:: RCV000782053.21

Allele description

NM_001286704.2(UFM1):c.-273_-271del

Genes:

UFM1:ubiquitin fold modifier 1 [Gene - OMIM - HGNC]
LOC130009585:ATAC-STARR-seq lymphoblastoid active region 7595 [Gene]

Variant type:

Deletion

Cytogenetic location:

13q13.3

Genomic location:

Preferred name:

NM_001286704.2(UFM1):c.-273_-271del

HGVS:

NC_000013.11:g.38349765_38349767del
NG_189164.1:g.265_267del
NM_001286704.2:c.-273_-271del
NC_000013.10:g.38923902_38923904del
NM_001286704.1:c.-273_-271del
NM_001286704.1:c.-273_-271delTCA
NM_016617.4:c.-155_-153delMANE SELECT
NM_016617.4:c.-155_-153delTCAMANE SELECT

Links:

OMIM: 610553.0001; dbSNP: rs747359907

NCBI 1000 Genomes Browser:

rs747359907

Molecular consequence:

NM_001286704.2:c.-273_-271del - upstream transcript variant - [Sequence Ontology: SO:0001986]

Functional consequence:

decreased transcript level variant [Sequence Ontology: SO:0001541]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000920521	Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 19, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001500592	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Pathogenic (Nov 1, 2022)	germline	clinical testing	Citation Link,
SCV004031350	Molecular Genetics laboratory, Necker Hospital	no assertion criteria provided	Pathogenic (Apr 16, 2020)	biparental	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000920521

Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 19, 2018)

germline

clinical testing

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

SCV001500592

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Pathogenic
(Nov 1, 2022)

germline

clinical testing

Citation Link,

SCV004031350

Molecular Genetics laboratory, Necker Hospital

no assertion criteria provided

Pathogenic
(Apr 16, 2020)

biparental

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	biparental	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	9	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

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 Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV000920521.1

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

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001500592.17

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	9	not provided	not provided	clinical testing	not provided

Description

UFM1: PM3:Very Strong, PM2

#	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		9	not provided	not provided	not provided

From Molecular Genetics laboratory, Necker Hospital, SCV004031350.1

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

#	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: Jun 23, 2024

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