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2-232480539-C-A

Variant summary

Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1

The NM_004826.4(ECEL1):c.2152-64G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.217 in 1,597,230 control chromosomes in the GnomAD database, including 38,596 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).

Frequency

Genomes: 𝑓 0.19 ( 2924 hom., cov: 33)
Exomes 𝑓: 0.22 ( 35672 hom. )

Consequence

ECEL1
NM_004826.4 intron

Scores

2

Clinical Significance

Benign criteria provided, single submitter B:1

Conservation

PhyloP100: -0.242
Variant links:
Genes affected
ECEL1 (HGNC:3147): (endothelin converting enzyme like 1) This gene encodes a member of the M13 family of endopeptidases. Members of this family are zinc-containing type II integral-membrane proteins that are important regulators of neuropeptide and peptide hormone activity. Mutations in this gene are associated with autosomal recessive distal arthrogryposis, type 5D. This gene has multiple pseudogenes on chromosome 2. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -14 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.82).
BP6
Variant 2-232480539-C-A is Benign according to our data. Variant chr2-232480539-C-A is described in ClinVar as [Benign]. Clinvar id is 1286601.Status of the report is criteria_provided_single_submitter, 1 stars.
BA1
GnomAd4 highest subpopulation (NFE) allele frequency at 95% confidence interval = 0.226 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect #exon/exons MANE UniProt
ECEL1NM_004826.4 linkuse as main transcriptc.2152-64G>T intron_variant ENST00000304546.6
ECEL1NM_001290787.2 linkuse as main transcriptc.2146-64G>T intron_variant

Ensembl

Gene Transcript HGVSc HGVSp Effect #exon/exons TSL MANE Appris UniProt
ECEL1ENST00000304546.6 linkuse as main transcriptc.2152-64G>T intron_variant 1 NM_004826.4 P4O95672-1
ECEL1ENST00000409941.1 linkuse as main transcriptc.2146-64G>T intron_variant 1 A1O95672-2
ECEL1ENST00000411860.5 linkuse as main transcriptc.331-64G>T intron_variant 3
ECEL1ENST00000482346.1 linkuse as main transcriptn.2463-64G>T intron_variant, non_coding_transcript_variant 2

Frequencies

GnomAD3 genomes
AF:
0.188
AC:
28609
AN:
151962
Hom.:
2927
Cov.:
33
show subpopulations
Gnomad AFR
AF:
0.117
Gnomad AMI
AF:
0.230
Gnomad AMR
AF:
0.195
Gnomad ASJ
AF:
0.133
Gnomad EAS
AF:
0.225
Gnomad SAS
AF:
0.180
Gnomad FIN
AF:
0.193
Gnomad MID
AF:
0.127
Gnomad NFE
AF:
0.229
Gnomad OTH
AF:
0.199
GnomAD4 exome
AF:
0.219
AC:
317208
AN:
1445150
Hom.:
35672
Cov.:
30
AF XY:
0.218
AC XY:
156417
AN XY:
718342
show subpopulations
Gnomad4 AFR exome
AF:
0.110
Gnomad4 AMR exome
AF:
0.214
Gnomad4 ASJ exome
AF:
0.143
Gnomad4 EAS exome
AF:
0.231
Gnomad4 SAS exome
AF:
0.175
Gnomad4 FIN exome
AF:
0.196
Gnomad4 NFE exome
AF:
0.230
Gnomad4 OTH exome
AF:
0.205
GnomAD4 genome
AF:
0.188
AC:
28624
AN:
152080
Hom.:
2924
Cov.:
33
AF XY:
0.187
AC XY:
13907
AN XY:
74336
show subpopulations
Gnomad4 AFR
AF:
0.117
Gnomad4 AMR
AF:
0.195
Gnomad4 ASJ
AF:
0.133
Gnomad4 EAS
AF:
0.224
Gnomad4 SAS
AF:
0.181
Gnomad4 FIN
AF:
0.193
Gnomad4 NFE
AF:
0.229
Gnomad4 OTH
AF:
0.202
Alfa
AF:
0.129
Hom.:
259

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 testingGeneDxOct 02, 2019- -

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.82
Cadd
Benign
3.2
Dann
Benign
0.82

Splicing

Name
Calibrated prediction
Score
Prediction
SpliceAI score (max)
0.0
Details are displayed if max score is > 0.2

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: rs1190432; hg19: chr2-233345249; COSMIC: COSV58813689; API