chr16-84479983-T-C
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_020947.4(MEAK7):āc.1301A>Gā(p.Gln434Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000863 in 1,609,274 control chromosomes in the GnomAD database, including 6 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. Q434H) has been classified as Uncertain significance.
Frequency
Consequence
NM_020947.4 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 |
---|---|---|---|---|---|---|---|
MEAK7 | NM_020947.4 | c.1301A>G | p.Gln434Arg | missense_variant | 8/8 | ENST00000343629.11 | |
MEAK7 | XM_005256075.3 | c.1301A>G | p.Gln434Arg | missense_variant | 9/9 | ||
MEAK7 | XM_017023511.2 | c.1301A>G | p.Gln434Arg | missense_variant | 8/8 | ||
MEAK7 | XM_047434410.1 | c.1301A>G | p.Gln434Arg | missense_variant | 8/8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MEAK7 | ENST00000343629.11 | c.1301A>G | p.Gln434Arg | missense_variant | 8/8 | 1 | NM_020947.4 | P1 | |
MEAK7 | ENST00000566995.5 | c.*715A>G | 3_prime_UTR_variant, NMD_transcript_variant | 9/9 | 5 | ||||
MEAK7 | ENST00000570036.5 | c.*1356A>G | 3_prime_UTR_variant, NMD_transcript_variant | 9/9 | 2 |
Frequencies
GnomAD3 genomes AF: 0.00493 AC: 751AN: 152200Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00131 AC: 325AN: 248992Hom.: 1 AF XY: 0.000988 AC XY: 133AN XY: 134632
GnomAD4 exome AF: 0.000437 AC: 637AN: 1456956Hom.: 1 Cov.: 31 AF XY: 0.000380 AC XY: 275AN XY: 724494
GnomAD4 genome AF: 0.00493 AC: 751AN: 152318Hom.: 5 Cov.: 32 AF XY: 0.00461 AC XY: 343AN XY: 74480
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jul 15, 2018 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at