16-69300977-C-CAAA

Variant names:

• chr16-69300977-C-CAAA
• NM_006750.4:c.*63_*65dupAAA

Variant summary

Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2

The NM_006750.4(SNTB2):​c.*63_*65dupAAA variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000512 in 741,980 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.

• Frequency:
  • Genomes: not found (cov: 29)
  • Exomes 𝑓: 0.000051 (0 hom.)
• Consequence: SNTB2 NM_006750.4 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: 0.169

Genes affected

SNTB2 (HGNC:11169): (syntrophin beta 2) Dystrophin is a large, rod-like cytoskeletal protein found at the inner surface of muscle fibers. Dystrophin is missing in Duchenne Muscular Dystrophy patients and is present in reduced amounts in Becker Muscular Dystrophy patients. The protein encoded by this gene is a peripheral membrane protein found associated with dystrophin and dystrophin-related proteins. This gene is a member of the syntrophin gene family, which contains at least two other structurally-related genes. [provided by RefSeq, Jul 2008]

ENSG00000260914 (HGNC:):

ACMG classification

Verdict is Uncertain_significance. Variant got 2 ACMG points.

• PM2: Very rare variant in population databases, with high coverage

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	MANE	Protein	UniProt
SNTB2	NM_006750.4	c.*63_*65dupAAA		3_prime_UTR_variant	Exon 7 of 7	ENST00000336278.9	NP_006741.1
SNTB2	NR_172088.1	n.1775_1777dupAAA		non_coding_transcript_exon_variant	Exon 8 of 8
SNTB2	NR_172089.1	n.1676_1678dupAAA		non_coding_transcript_exon_variant	Exon 7 of 7
SNTB2	NR_172090.1	n.1478_1480dupAAA		non_coding_transcript_exon_variant	Exon 6 of 6

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	Exon rank	TSL	MANE	Protein	Appris	UniProt
SNTB2	ENST00000336278.9	c.*63_*65dupAAA		3_prime_UTR_variant	Exon 7 of 7	1	NM_006750.4	ENSP00000338191.4
ENSG00000260914	ENST00000570054.3	c.93+1213_93+1215dupAAA		intron_variant	Intron 1 of 9	5		ENSP00000461295.3

Frequencies

GnomAD3 genomes Cov.: 29

GnomAD4 exome AF: 0.0000512 AC: 38 AN: 741980 Hom.: 0 Cov.: 6 AF XY: 0.0000419 AC XY: 16 AN XY: 381818

Gnomad4 AFR exome AF: 0.0000578

Gnomad4 AMR exome AF: 0.00

Gnomad4 ASJ exome AF: 0.0000573

Gnomad4 EAS exome AF: 0.00

Gnomad4 SAS exome AF: 0.0000359

Gnomad4 FIN exome AF: 0.0000510

Gnomad4 NFE exome AF: 0.0000537

Gnomad4 OTH exome AF: 0.000117

GnomAD4 genome Cov.: 29

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Splicing

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

Publications

No publications associated with this variant yet.

Other links and lift over

hg19: chr16-69334880;