NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs) AND Alstrom syndrome

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 13, 2018
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:: RCV000672685.1

Allele description [Variation Report for NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs)]

NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs)

Genes:

ALMS1:ALMS1 centrosome and basal body associated protein [Gene - OMIM - HGNC]
LOC126806252:BRD4-independent group 4 enhancer GRCh37_chr2:73828496-73829695 [Gene]

Variant type:

Deletion

Cytogenetic location:

2p13.1

Genomic location:

Preferred name:

NM_001378454.1(ALMS1):c.12075del (p.Arg4026fs)

HGVS:

NC_000002.12:g.73601397del
NG_011690.1:g.220645del
NM_001378454.1:c.12075delMANE SELECT
NM_015120.4:c.12078del
NP_001365383.1:p.Arg4026fs
NP_055935.4:p.Arg4027fs
LRG_741t1:c.12078del
LRG_741:g.220645del
LRG_741p1:p.Arg4027fs
NC_000002.11:g.73828524del
NM_015120.4:c.12078delC

Protein change:

R4026fs

Links:

dbSNP: rs1553421739

NCBI 1000 Genomes Browser:

rs1553421739

Molecular consequence:

NM_001378454.1:c.12075del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_015120.4:c.12078del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Alstrom syndrome (ALMS)
Synonyms:: Alstrom's syndrome
Identifiers:: MONDO: MONDO:0008763; MedGen: C0268425; Orphanet: 64; OMIM: 203800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000797818	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Likely pathogenic (Feb 13, 2018)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000797818

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Likely pathogenic
(Feb 13, 2018)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000797818.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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