2-195756164-T-C
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_018897.3(DNAH7):āc.11555A>Gā(p.Asn3852Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00306 in 1,607,940 control chromosomes in the GnomAD database, including 131 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_018897.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
DNAH7 | NM_018897.3 | c.11555A>G | p.Asn3852Ser | missense_variant | 62/65 | ENST00000312428.11 | NP_061720.2 | |
LOC107985972 | XR_001739837.2 | n.1828-1936T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
DNAH7 | ENST00000312428.11 | c.11555A>G | p.Asn3852Ser | missense_variant | 62/65 | 1 | NM_018897.3 | ENSP00000311273 | P1 | |
DNAH7 | ENST00000409063.5 | c.1004A>G | p.Asn335Ser | missense_variant | 7/10 | 1 | ENSP00000386912 | |||
DNAH7 | ENST00000438565.1 | c.35A>G | p.Asn12Ser | missense_variant | 1/3 | 3 | ENSP00000409732 |
Frequencies
GnomAD3 genomes AF: 0.0168 AC: 2549AN: 152176Hom.: 69 Cov.: 32
GnomAD3 exomes AF: 0.00427 AC: 1053AN: 246356Hom.: 29 AF XY: 0.00344 AC XY: 460AN XY: 133672
GnomAD4 exome AF: 0.00163 AC: 2368AN: 1455646Hom.: 63 Cov.: 31 AF XY: 0.00139 AC XY: 1009AN XY: 723336
GnomAD4 genome AF: 0.0168 AC: 2553AN: 152294Hom.: 68 Cov.: 32 AF XY: 0.0167 AC XY: 1244AN XY: 74474
ClinVar
Submissions by phenotype
not provided Benign:2
Benign, criteria provided, single submitter | not provided | Breakthrough Genomics, Breakthrough Genomics | - | - - |
Benign, criteria provided, single submitter | clinical testing | Labcorp Genetics (formerly Invitae), Labcorp | Dec 31, 2019 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at