chr2-73385828-C-CCCT

Variant summary

Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP6_Moderate

The ENST00000484298.5(ALMS1):​c.-27_-25dup variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000977 in 665,138 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.00014 ( 0 hom., cov: 32)
Exomes 𝑓: 0.000086 ( 0 hom. )

Consequence

ALMS1
ENST00000484298.5 5_prime_UTR

Scores

Not classified

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.530
Variant links:
Genes affected
ALMS1 (HGNC:428): (ALMS1 centrosome and basal body associated protein) This gene encodes a protein containing a large tandem-repeat domain as well as additional low complexity regions. The encoded protein functions in microtubule organization, particularly in the formation and maintanance of cilia. Mutations in this gene cause Alstrom syndrome. There is a pseudogene for this gene located adjacent in the same region of chromosome 2. Alternative splice variants have been described but their full length nature has not been determined. [provided by RefSeq, Apr 2014]

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ACMG classification

Classification made for transcript

Verdict is Uncertain_significance. Variant got 0 ACMG points.

PM2
Very rare variant in population databases, with high coverage;
BP6
Variant 2-73385828-C-CCCT is Benign according to our data. Variant chr2-73385828-C-CCCT is described in ClinVar as [Benign]. Clinvar id is 421812.Status of the report is criteria_provided_single_submitter, 1 stars.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
ALMS1NM_015120.4 linkuse as main transcriptc.-27_-25dup 5_prime_UTR_variant 1/23
ALMS1NM_001378454.1 linkuse as main transcript upstream_gene_variant ENST00000613296.6

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
ALMS1ENST00000484298.5 linkuse as main transcriptc.-27_-25dup 5_prime_UTR_variant 1/221 A2
ALMS1ENST00000613296.6 linkuse as main transcript upstream_gene_variant 1 NM_001378454.1 P3Q8TCU4-1
ALMS1ENST00000614410.4 linkuse as main transcript upstream_gene_variant 5

Frequencies

GnomAD3 genomes
AF:
0.000138
AC:
21
AN:
151666
Hom.:
0
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.000290
Gnomad AMI
AF:
0.00
Gnomad AMR
AF:
0.000131
Gnomad ASJ
AF:
0.00
Gnomad EAS
AF:
0.000194
Gnomad SAS
AF:
0.00
Gnomad FIN
AF:
0.00
Gnomad MID
AF:
0.00
Gnomad NFE
AF:
0.0000885
Gnomad OTH
AF:
0.00
GnomAD3 exomes
AF:
0.000157
AC:
11
AN:
69986
Hom.:
0
AF XY:
0.000240
AC XY:
9
AN XY:
37562
show subpopulations
Gnomad AFR exome
AF:
0.000664
Gnomad AMR exome
AF:
0.000283
Gnomad ASJ exome
AF:
0.00
Gnomad EAS exome
AF:
0.00
Gnomad SAS exome
AF:
0.000348
Gnomad FIN exome
AF:
0.00
Gnomad NFE exome
AF:
0.0000393
Gnomad OTH exome
AF:
0.00
GnomAD4 exome
AF:
0.0000857
AC:
44
AN:
513370
Hom.:
0
Cov.:
0
AF XY:
0.000101
AC XY:
28
AN XY:
276450
show subpopulations
Gnomad4 AFR exome
AF:
0.000279
Gnomad4 AMR exome
AF:
0.000279
Gnomad4 ASJ exome
AF:
0.00
Gnomad4 EAS exome
AF:
0.0000333
Gnomad4 SAS exome
AF:
0.000196
Gnomad4 FIN exome
AF:
0.00
Gnomad4 NFE exome
AF:
0.0000535
Gnomad4 OTH exome
AF:
0.000105
GnomAD4 genome
AF:
0.000138
AC:
21
AN:
151768
Hom.:
0
Cov.:
32
AF XY:
0.000135
AC XY:
10
AN XY:
74178
show subpopulations
Gnomad4 AFR
AF:
0.000289
Gnomad4 AMR
AF:
0.000131
Gnomad4 ASJ
AF:
0.00
Gnomad4 EAS
AF:
0.000195
Gnomad4 SAS
AF:
0.00
Gnomad4 FIN
AF:
0.00
Gnomad4 NFE
AF:
0.0000885
Gnomad4 OTH
AF:
0.00

ClinVar

Significance: Benign
Submissions summary: Benign:1
Revision: criteria provided, single submitter
LINK: link

Submissions by phenotype

not provided Benign:1
Benign, criteria provided, single submitterclinical testingGeneDxDec 05, 2019- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction

Splicing

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Publications

LitVar

Below is the list of publications found by LitVar. It may be empty.

Other links and lift over

dbSNP: rs746980000; hg19: chr2-73612956; API