chr7-151176641-G-C
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_001142459.2(ASB10):c.1140C>G(p.Ile380Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000574 in 1,551,340 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. I380F) has been classified as Uncertain significance.
Frequency
Consequence
NM_001142459.2 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 | UniProt |
---|---|---|---|---|---|---|---|
ASB10 | NM_001142459.2 | c.1140C>G | p.Ile380Met | missense_variant | 4/6 | ENST00000420175.3 | |
ASB10 | NM_080871.4 | c.1095C>G | p.Ile365Met | missense_variant | 4/6 | ||
ASB10 | NM_001142460.1 | c.1105-344C>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ASB10 | ENST00000420175.3 | c.1140C>G | p.Ile380Met | missense_variant | 4/6 | 1 | NM_001142459.2 | P4 | |
ASB10 | ENST00000275838.5 | c.1105-344C>G | intron_variant | 1 | |||||
ASB10 | ENST00000377867.7 | c.1095C>G | p.Ile365Met | missense_variant | 4/6 | 2 | A1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000657 AC: 10AN: 152168Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000573 AC: 9AN: 156986Hom.: 0 AF XY: 0.0000722 AC XY: 6AN XY: 83144
GnomAD4 exome AF: 0.0000565 AC: 79AN: 1399172Hom.: 0 Cov.: 32 AF XY: 0.0000623 AC XY: 43AN XY: 690048
GnomAD4 genome ? AF: 0.0000657 AC: 10AN: 152168Hom.: 0 Cov.: 33 AF XY: 0.0000942 AC XY: 7AN XY: 74336
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 10, 2023 | The c.1140C>G (p.I380M) alteration is located in exon 4 (coding exon 4) of the ASB10 gene. This alteration results from a C to G substitution at nucleotide position 1140, causing the isoleucine (I) at amino acid position 380 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