7-118234777-G-A
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_019644.4(ANKRD7):c.371G>A(p.Arg124His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000112 in 1,613,152 control chromosomes in the GnomAD database, including 2 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. 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. R124C) has been classified as Uncertain significance.
Frequency
Consequence
NM_019644.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
ANKRD7 | NM_019644.4 | c.371G>A | p.Arg124His | missense_variant | 3/7 | ENST00000265224.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ANKRD7 | ENST00000265224.9 | c.371G>A | p.Arg124His | missense_variant | 3/7 | 1 | NM_019644.4 | P2 | |
ANKRD7 | ENST00000417525.5 | c.371G>A | p.Arg124His | missense_variant | 3/7 | 5 | A2 | ||
ANKRD7 | ENST00000477532.5 | c.-146G>A | 5_prime_UTR_variant | 3/6 | 5 | ||||
ANKRD7 | ENST00000433239.6 | n.328G>A | non_coding_transcript_exon_variant | 3/16 | 5 |
Frequencies
GnomAD3 genomes AF: 0.000388 AC: 59AN: 152130Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000209 AC: 52AN: 248592Hom.: 1 AF XY: 0.000178 AC XY: 24AN XY: 134824
GnomAD4 exome AF: 0.0000835 AC: 122AN: 1460904Hom.: 2 Cov.: 31 AF XY: 0.0000771 AC XY: 56AN XY: 726720
GnomAD4 genome AF: 0.000388 AC: 59AN: 152248Hom.: 0 Cov.: 32 AF XY: 0.000430 AC XY: 32AN XY: 74438
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Jan 23, 2024 | The c.371G>A (p.R124H) alteration is located in exon 3 (coding exon 3) of the ANKRD7 gene. This alteration results from a G to A substitution at nucleotide position 371, causing the arginine (R) at amino acid position 124 to be replaced by a histidine (H). 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