chr6-2836133-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_030666.4(SERPINB1):c.542C>T(p.Thr181Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000155 in 1,613,708 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030666.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SERPINB1 | NM_030666.4 | c.542C>T | p.Thr181Met | missense_variant | 5/7 | ENST00000380739.6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SERPINB1 | ENST00000380739.6 | c.542C>T | p.Thr181Met | missense_variant | 5/7 | 1 | NM_030666.4 | P1 | |
SERPINB1 | ENST00000468511.5 | n.236C>T | non_coding_transcript_exon_variant | 2/3 | 3 | ||||
SERPINB1 | ENST00000476896.5 | n.847C>T | non_coding_transcript_exon_variant | 6/6 | 5 | ||||
SERPINB1 | ENST00000490094.5 | n.589C>T | non_coding_transcript_exon_variant | 5/6 | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000197 AC: 3AN: 151932Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000159 AC: 4AN: 251284Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135818
GnomAD4 exome AF: 0.0000151 AC: 22AN: 1461776Hom.: 0 Cov.: 34 AF XY: 0.0000165 AC XY: 12AN XY: 727178
GnomAD4 genome AF: 0.0000197 AC: 3AN: 151932Hom.: 0 Cov.: 32 AF XY: 0.0000270 AC XY: 2AN XY: 74174
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Feb 05, 2024 | The c.542C>T (p.T181M) alteration is located in exon 5 (coding exon 4) of the SERPINB1 gene. This alteration results from a C to T substitution at nucleotide position 542, causing the threonine (T) at amino acid position 181 to be replaced by a methionine (M). 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