chr19-48935106-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_014475.4(DHDH):c.197G>A(p.Ser66Asn) variant causes a missense change. The variant allele was found at a frequency of 0.269 in 1,562,794 control chromosomes in the GnomAD database, including 70,408 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/19 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_014475.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
DHDH | NM_014475.4 | c.197G>A | p.Ser66Asn | missense_variant | 2/7 | ENST00000221403.7 | |
DHDH | XM_047438617.1 | c.197G>A | p.Ser66Asn | missense_variant | 2/5 | ||
DHDH | XM_005258748.5 | c.25G>A | p.Ala9Thr | missense_variant | 2/6 | ||
DHDH | XM_017026598.2 | c.-53G>A | 5_prime_UTR_variant | 2/7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
DHDH | ENST00000221403.7 | c.197G>A | p.Ser66Asn | missense_variant | 2/7 | 1 | NM_014475.4 | P1 | |
DHDH | ENST00000522614.5 | c.197G>A | p.Ser66Asn | missense_variant | 2/5 | 5 | |||
DHDH | ENST00000523250.5 | c.197G>A | p.Ser66Asn | missense_variant | 2/5 | 5 | |||
DHDH | ENST00000520557.1 | c.161G>A | p.Ser54Asn | missense_variant, NMD_transcript_variant | 2/5 | 5 |
Frequencies
GnomAD3 genomes AF: 0.401 AC: 60955AN: 151964Hom.: 15833 Cov.: 33
GnomAD3 exomes AF: 0.338 AC: 60510AN: 178820Hom.: 12194 AF XY: 0.327 AC XY: 31433AN XY: 96198
GnomAD4 exome AF: 0.255 AC: 359511AN: 1410712Hom.: 54526 Cov.: 32 AF XY: 0.257 AC XY: 179119AN XY: 697794
GnomAD4 genome AF: 0.402 AC: 61074AN: 152082Hom.: 15882 Cov.: 33 AF XY: 0.408 AC XY: 30337AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at