chr7-38436278-C-G
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBA1
The NM_001635.4(AMPH):c.1128G>C(p.Met376Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.005 in 1,613,478 control chromosomes in the GnomAD database, including 340 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_001635.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AMPH | NM_001635.4 | c.1128G>C | p.Met376Ile | missense_variant | 12/21 | ENST00000356264.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AMPH | ENST00000356264.7 | c.1128G>C | p.Met376Ile | missense_variant | 12/21 | 1 | NM_001635.4 | P3 | |
AMPH | ENST00000325590.9 | c.1128G>C | p.Met376Ile | missense_variant | 12/20 | 1 | A2 | ||
AMPH | ENST00000441628.5 | c.381G>C | p.Met127Ile | missense_variant | 3/12 | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.0274 AC: 4176AN: 152148Hom.: 182 Cov.: 32
GnomAD3 exomes AF: 0.00714 AC: 1796AN: 251394Hom.: 77 AF XY: 0.00545 AC XY: 741AN XY: 135878
GnomAD4 exome AF: 0.00266 AC: 3890AN: 1461212Hom.: 156 Cov.: 30 AF XY: 0.00234 AC XY: 1703AN XY: 726966
GnomAD4 genome ? AF: 0.0275 AC: 4181AN: 152266Hom.: 184 Cov.: 32 AF XY: 0.0273 AC XY: 2033AN XY: 74448
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at