rs1377347

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1

The NM_001330787.2(LIMCH1):​c.96+9649T>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.418 in 151,914 control chromosomes in the GnomAD database, including 14,831 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

Frequency

Genomes: 𝑓 0.42 ( 14831 hom., cov: 32)

Consequence

LIMCH1
NM_001330787.2 intron

Scores

2

Clinical Significance

Not reported in ClinVar

Conservation

PhyloP100: 0.429
Variant links:
Genes affected
LIMCH1 (HGNC:29191): (LIM and calponin homology domains 1) Enables myosin II head/neck binding activity. Involved in several processes, including cytoplasmic actin-based contraction involved in cell motility; positive regulation of stress fiber assembly; and regulation of focal adhesion assembly. Located in stress fiber. Colocalizes with myosin II complex. [provided by Alliance of Genome Resources, Apr 2022]

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ACMG classification

Classification made for transcript

Verdict is Benign. Variant got -12 ACMG points.

BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.6).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.633 is higher than 0.05.

Transcripts

RefSeq

Gene Transcript HGVSc HGVSp Effect Exon rank MANE Protein UniProt
LIMCH1NM_001330787.2 linkc.96+9649T>G intron_variant Intron 1 of 26 NP_001317716.1
LIMCH1NM_014988.5 linkc.96+9649T>G intron_variant Intron 1 of 26 NP_055803.2 Q9UPQ0-1
LIMCH1NM_001330790.2 linkc.96+9649T>G intron_variant Intron 1 of 26 NP_001317719.1

Ensembl

Gene Transcript HGVSc HGVSp Effect Exon rank TSL MANE Protein Appris UniProt
LIMCH1ENST00000313860.12 linkc.96+9649T>G intron_variant Intron 1 of 26 1 ENSP00000316891.7 Q9UPQ0-1
LIMCH1ENST00000512820.5 linkc.96+9649T>G intron_variant Intron 1 of 25 1 ENSP00000424437.1 Q9UPQ0-4
LIMCH1ENST00000512946.5 linkc.96+9649T>G intron_variant Intron 1 of 25 1 ENSP00000424645.1 Q9UPQ0-2

Frequencies

GnomAD3 genomes
AF:
0.418
AC:
63449
AN:
151796
Hom.:
14810
Cov.:
32
show subpopulations
Gnomad AFR
AF:
0.640
Gnomad AMI
AF:
0.196
Gnomad AMR
AF:
0.417
Gnomad ASJ
AF:
0.491
Gnomad EAS
AF:
0.392
Gnomad SAS
AF:
0.434
Gnomad FIN
AF:
0.322
Gnomad MID
AF:
0.468
Gnomad NFE
AF:
0.299
Gnomad OTH
AF:
0.394
We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome
AF:
0.418
AC:
63520
AN:
151914
Hom.:
14831
Cov.:
32
AF XY:
0.419
AC XY:
31121
AN XY:
74228
show subpopulations
Gnomad4 AFR
AF:
0.640
Gnomad4 AMR
AF:
0.417
Gnomad4 ASJ
AF:
0.491
Gnomad4 EAS
AF:
0.393
Gnomad4 SAS
AF:
0.436
Gnomad4 FIN
AF:
0.322
Gnomad4 NFE
AF:
0.299
Gnomad4 OTH
AF:
0.390
Alfa
AF:
0.342
Hom.:
4565
Bravo
AF:
0.431
Asia WGS
AF:
0.418
AC:
1458
AN:
3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name
Calibrated prediction
Score
Prediction
BayesDel_noAF
Benign
-0.60
CADD
Benign
10
DANN
Benign
0.83

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: rs1377347; hg19: chr4-41372602; API