rs932195033

Variant names:

• chr19-51379910-A-C
• rs932195033
• NM_001161748.2:c.*291T>G

Your query was ambiguous. Multiple possible variants found:

• chr19-51379910-A-C
• chr19-51379910-A-G

Variant summary

Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_001161748.2(LIM2):​c.*291T>G variant causes a splice region change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000511 in 391,634 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 1/1 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 31)
  • Exomes 𝑓: 0.0000051 (0 hom.)
• Consequence: LIM2 NM_001161748.2 splice_region
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -0.187

Genes affected

LIM2 (HGNC:6610): (lens intrinsic membrane protein 2) This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataractogenesis. Mutations in this gene have been associated with cataract formation. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]

ACMG classification

Verdict is Likely_benign. Variant got -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.87).

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
LIM2	NM_001161748.2	c.*291T>G		splice_region_variant	Exon 5 of 5	ENST00000596399.2	NP_001155220.1
LIM2	NM_001161748.2	c.*291T>G		3_prime_UTR_variant	Exon 5 of 5	ENST00000596399.2	NP_001155220.1
LIM2	NM_030657.4	c.*291T>G		splice_region_variant	Exon 5 of 5		NP_085915.2
LIM2	NM_030657.4	c.*291T>G		3_prime_UTR_variant	Exon 5 of 5		NP_085915.2

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
LIM2	ENST00000596399.2	c.*291T>G		splice_region_variant	Exon 5 of 5	1	NM_001161748.2	ENSP00000472090.2
LIM2	ENST00000221973.7	c.*291T>G		splice_region_variant	Exon 5 of 5	1		ENSP00000221973.2
LIM2	ENST00000596399	c.*291T>G		3_prime_UTR_variant	Exon 5 of 5	1	NM_001161748.2	ENSP00000472090.2
LIM2	ENST00000221973	c.*291T>G		3_prime_UTR_variant	Exon 5 of 5	1		ENSP00000221973.2

Frequencies

GnomAD3 genomes Cov.: 31

GnomAD4 exome AF: 0.00000511 AC: 2 AN: 391634 Hom.: 0 Cov.: 0 AF XY: 0.00000486 AC XY: 1 AN XY: 205832

Gnomad4 AFR exome AF: 0.00

Gnomad4 AMR exome AF: 0.000121

Gnomad4 ASJ exome AF: 0.00

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.00

Gnomad4 NFE exome AF: 0.00

Gnomad4 OTH exome AF: 0.00

GnomAD4 genome Cov.: 31

Bravo AF: 0.00000756

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.87
CADD	Benign	0.76
DANN	Benign	0.69

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

Other links and lift over

dbSNP: rs932195033; hg19: chr19-51883164;