rs79597785
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Variant summary
Our verdict is Benign. Variant got -21 ACMG points: 0P and 21B. BP4_StrongBP6_Very_StrongBP7BS1BS2
The NM_006662.3(SRCAP):āc.4293C>Gā(p.Val1431=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0223 in 1,614,130 control chromosomes in the GnomAD database, including 532 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (ā ā ).
Frequency
Genomes: š 0.015 ( 29 hom., cov: 32)
Exomes š: 0.023 ( 503 hom. )
Consequence
SRCAP
NM_006662.3 synonymous
NM_006662.3 synonymous
Scores
2
Clinical Significance
Conservation
PhyloP100: -0.426
Genes affected
SRCAP (HGNC:16974): (Snf2 related CREBBP activator protein) This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -21 ACMG points.
BP4
?
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BP6
?
Variant 16-30723717-C-G is Benign according to our data. Variant chr16-30723717-C-G is described in ClinVar as [Likely_benign]. Clinvar id is 160034.Status of the report is criteria_provided_multiple_submitters_no_conflicts, 2 stars.
BP7
?
Synonymous conserved (PhyloP=-0.426 with no splicing effect.
BS1
?
Variant frequency is greater than expected in population nfe. gnomad4 allele frequency = 0.0147 (2231/152244) while in subpopulation NFE AF= 0.0246 (1673/68020). AF 95% confidence interval is 0.0236. There are 29 homozygotes in gnomad4. There are 996 alleles in male gnomad4 subpopulation. Median coverage is 32. This position pass quality control queck.
BS2
?
High AC in GnomAd4 at 2231 AD gene.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
SRCAP | NM_006662.3 | c.4293C>G | p.Val1431= | synonymous_variant | 25/34 | ENST00000262518.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SRCAP | ENST00000262518.9 | c.4293C>G | p.Val1431= | synonymous_variant | 25/34 | 2 | NM_006662.3 | P1 | |
SRCAP | ENST00000411466.7 | c.4293C>G | p.Val1431= | synonymous_variant | 25/34 | 3 | P1 | ||
SRCAP | ENST00000706321.1 | c.4293C>G | p.Val1431= | synonymous_variant | 25/34 | P1 | |||
SRCAP | ENST00000483083.3 | c.3393C>G | p.Val1131= | synonymous_variant | 18/18 | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.0147 AC: 2232AN: 152126Hom.: 29 Cov.: 32
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GnomAD3 exomes AF: 0.0130 AC: 3280AN: 251474Hom.: 47 AF XY: 0.0132 AC XY: 1791AN XY: 135908
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GnomAD4 exome AF: 0.0231 AC: 33703AN: 1461886Hom.: 503 Cov.: 35 AF XY: 0.0223 AC XY: 16238AN XY: 727244
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GnomAD4 genome ? AF: 0.0147 AC: 2231AN: 152244Hom.: 29 Cov.: 32 AF XY: 0.0134 AC XY: 996AN XY: 74444
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ClinVar
Significance: Benign/Likely benign
Submissions summary: Benign:5
Revision: criteria provided, multiple submitters, no conflicts
LINK: link
Submissions by phenotype
not specified Benign:2
Likely benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | - | - - |
Benign, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Mar 04, 2013 | - - |
not provided Benign:2
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 29, 2024 | - - |
Likely benign, criteria provided, single submitter | clinical testing | GeneDx | May 05, 2021 | See Variant Classification Assertion Criteria. - |
Floating-Harbor syndrome;C5562012:Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities Benign:1
Benign, criteria provided, single submitter | clinical testing | Fulgent Genetics, Fulgent Genetics | Oct 06, 2021 | - - |
Computational scores
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BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
RBP_binding_hub_radar
RBP_regulation_power_radar
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at