5-154451330-G-T

Variant names:

• chr5-154451330-G-T
• rs2277939
• NM_024632.6:c.324+117G>T

Variant summary

Our verdict is Likely benign. The variant received -2 ACMG points: 2P and 4B. PM2 BP4_Strong

The NM_024632.6(SAP30L):​c.324+117G>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 32)
  • Exomes 𝑓: 0.0 (0 hom.)
  • Failed GnomAD Quality Control
• Consequence: SAP30L NM_024632.6 intron
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.829
• Publications: 5 publications found

Genes affected

SAP30L (HGNC:25663): (SAP30 like) Enables several functions, including non-sequence-specific DNA binding activity, bending; phosphatidylinositol phosphate binding activity; and zinc ion binding activity. Involved in negative regulation of transcription by RNA polymerase II. Located in fibrillar center and nucleoplasm. Part of histone deacetylase complex. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Our verdict: Likely_benign. The variant received -2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage
• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.79).

Variant Effect in Transcripts

ACMG analysis was done for transcript: NM_024632.6. You can select a different transcript below to see updated ACMG assignments.

RefSeq Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SAP30L	NM_024632.6	MANE Select	c.324+117G>T		intron	N/A	NP_078908.1
	SAP30L	NM_001131062.2		c.202-2072G>T		intron	N/A	NP_001124534.1
	SAP30L	NM_001131063.2		c.202-2087G>T		intron	N/A	NP_001124535.1

Ensembl Transcripts

Sel.	Gene	Transcript	Tags	HGVSc	HGVSp	Effect	Exon Rank	Protein	UniProt
	SAP30L	ENST00000297109.11	TSL:1 MANE Select	c.324+117G>T		intron	N/A	ENSP00000297109.5
	SAP30L	ENST00000937072.1		c.324+117G>T		intron	N/A	ENSP00000607131.1
	SAP30L	ENST00000960937.1		c.324+117G>T		intron	N/A	ENSP00000630996.1

Frequencies

GnomAD3 genomes Cov.: 32

GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0 AN: 978056 Hom.: 0 Cov.: 12 AF XY: 0.00 AC XY: 0 AN XY: 489734

African (AFR) AF: 0.00 AC: 0 AN: 22626

American (AMR) AF: 0.00 AC: 0 AN: 21500

Ashkenazi Jewish (ASJ) AF: 0.00 AC: 0 AN: 17024

East Asian (EAS) AF: 0.00 AC: 0 AN: 35658

South Asian (SAS) AF: 0.00 AC: 0 AN: 56754

European-Finnish (FIN) AF: 0.00 AC: 0 AN: 46804

Middle Eastern (MID) AF: 0.00 AC: 0 AN: 3834

European-Non Finnish (NFE) AF: 0.00 AC: 0 AN: 730680

Other (OTH) AF: 0.00 AC: 0 AN: 43176

GnomAD4 genome Cov.: 32

Alfa AF: 0.00 Hom.: 109427

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.9

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.79
CADD	Benign	11
DANN	Benign	0.77
PhyloP100		0.83

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.030		Details are displayed if max score is > 0.2

Find out detailed SpliceAI scores and Pangolin per-transcript scores at spliceailookup.broadinstitute.org

Other links and lift over

dbSNP: rs2277939; hg19: chr5-153830890;