chr3-45595906-T-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BP4_Strong
The NM_014240.3(LIMD1):c.1027T>A(p.Ser343Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000996 in 1,614,166 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 16/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014240.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LIMD1 | NM_014240.3 | c.1027T>A | p.Ser343Thr | missense_variant | 1/8 | ENST00000273317.5 | NP_055055.1 | |
LIMD1 | XM_011534207.4 | c.1027T>A | p.Ser343Thr | missense_variant | 1/2 | XP_011532509.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LIMD1 | ENST00000273317.5 | c.1027T>A | p.Ser343Thr | missense_variant | 1/8 | 1 | NM_014240.3 | ENSP00000273317 | P1 | |
LIMD1 | ENST00000440097.5 | c.1027T>A | p.Ser343Thr | missense_variant | 1/6 | 5 | ENSP00000394537 | |||
LIMD1 | ENST00000465039.5 | n.102-16986T>A | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.000519 AC: 79AN: 152158Hom.: 1 Cov.: 33
GnomAD3 exomes AF: 0.000366 AC: 92AN: 251476Hom.: 0 AF XY: 0.000383 AC XY: 52AN XY: 135920
GnomAD4 exome AF: 0.00105 AC: 1529AN: 1461890Hom.: 1 Cov.: 79 AF XY: 0.00102 AC XY: 739AN XY: 727246
GnomAD4 genome AF: 0.000519 AC: 79AN: 152276Hom.: 1 Cov.: 33 AF XY: 0.000457 AC XY: 34AN XY: 74448
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jul 13, 2021 | The c.1027T>A (p.S343T) alteration is located in exon 1 (coding exon 1) of the LIMD1 gene. This alteration results from a T to A substitution at nucleotide position 1027, causing the serine (S) at amino acid position 343 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at