rs148904419
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 2P and 16B. PM2BP4_StrongBP6_Very_StrongBS1
The NM_015214.3(DDHD2):āc.864A>Cā(p.Ile288Ile) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00045 in 1,614,114 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Consequence
NM_015214.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000368 AC: 56AN: 152238Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000322 AC: 81AN: 251288Hom.: 0 AF XY: 0.000317 AC XY: 43AN XY: 135838
GnomAD4 exome AF: 0.000459 AC: 671AN: 1461758Hom.: 1 Cov.: 32 AF XY: 0.000472 AC XY: 343AN XY: 727170
GnomAD4 genome AF: 0.000368 AC: 56AN: 152356Hom.: 0 Cov.: 33 AF XY: 0.000403 AC XY: 30AN XY: 74502
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Hereditary spastic paraplegia 54 Benign:1
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Hereditary spastic paraplegia Benign:1
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not provided Benign:1
DDHD2: BP4, BP7 -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at