rs1051246
Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BA1
The NM_003019.5(SFTPD):āc.918T>Cā(p.Ala306Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.137 in 1,613,872 control chromosomes in the GnomAD database, including 17,397 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (ā ā ).
Frequency
Consequence
NM_003019.5 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -21 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SFTPD | NM_003019.5 | c.918T>C | p.Ala306Ala | synonymous_variant | Exon 8 of 8 | ENST00000372292.8 | NP_003010.4 | |
SFTPD | XM_011540087.2 | c.918T>C | p.Ala306Ala | synonymous_variant | Exon 8 of 8 | XP_011538389.1 | ||
SFTPD | XM_011540088.3 | c.801T>C | p.Ala267Ala | synonymous_variant | Exon 7 of 7 | XP_011538390.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.166 AC: 25295AN: 151994Hom.: 2540 Cov.: 32
GnomAD3 exomes AF: 0.157 AC: 39476AN: 251466Hom.: 4021 AF XY: 0.154 AC XY: 20874AN XY: 135910
GnomAD4 exome AF: 0.134 AC: 195492AN: 1461760Hom.: 14844 Cov.: 33 AF XY: 0.135 AC XY: 98277AN XY: 727154
GnomAD4 genome AF: 0.167 AC: 25360AN: 152112Hom.: 2553 Cov.: 32 AF XY: 0.167 AC XY: 12395AN XY: 74364
ClinVar
Submissions by phenotype
not specified Benign:1
Ala306Ala in exon 8 of SFTPD: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 22.9% (1010/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs1051246). -
not provided Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at