chr16-87830869-G-C

Position:

• chr16-87830869-G-C

Variant summary

Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_Strong BA1

The NM_003486.7(SLC7A5):​c.*2101C>G variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.325 in 152,188 control chromosomes in the GnomAD database, including 8,336 homozygotes. 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: 𝑓 0.32 (8335 hom., cov: 33)
  • Exomes 𝑓: 0.19 (1 hom.)
• Consequence: SLC7A5 NM_003486.7 3_prime_UTR
• Clinical Significance: Not reported in ClinVar
• Conservation: PhyloP100: -1.72

Genes affected

SLC7A5 (HGNC:11063): (solute carrier family 7 member 5) Enables L-leucine transmembrane transporter activity; L-tryptophan transmembrane transporter activity; and thyroid hormone transmembrane transporter activity. Involved in carboxylic acid transport; thyroid hormone transport; and xenobiotic transport. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Is integral component of membrane. Part of amino acid transport complex; apical plasma membrane; and microvillus membrane. [provided by Alliance of Genome Resources, Apr 2022]

ACMG classification

Verdict is Benign. Variant got -12 ACMG points.

• BP4: Computational evidence support a benign effect (BayesDel_noAF=-0.81).
• BA1: GnomAd4 highest subpopulation (EAS) allele frequency at 95% confidence interval = 0.492 is higher than 0.05.

Transcripts

RefSeq

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	MANE	UniProt
SLC7A5	NM_003486.7	c.*2101C>G		3_prime_UTR_variant	10/10	ENST00000261622.5

Ensembl

Gene	Transcript	HGVSc	HGVSp	Effect	#exon/exons	TSL	MANE	Appris	UniProt
SLC7A5	ENST00000261622.5	c.*2101C>G		3_prime_UTR_variant	10/10	1	NM_003486.7	P1
SLC7A5	ENST00000565644.5	c.*2101C>G		3_prime_UTR_variant	10/10	1

Frequencies

GnomAD3 genomes AF: 0.325 AC: 49363 AN: 152012 Hom.: 8321 Cov.: 33

Gnomad AFR AF: 0.364

Gnomad AMI AF: 0.195

Gnomad AMR AF: 0.408

Gnomad ASJ AF: 0.220

Gnomad EAS AF: 0.508

Gnomad SAS AF: 0.217

Gnomad FIN AF: 0.293

Gnomad MID AF: 0.187

Gnomad NFE AF: 0.290

Gnomad OTH AF: 0.290

GnomAD4 exome AF: 0.190 AC: 11 AN: 58 Hom.: 1 Cov.: 0 AF XY: 0.182 AC XY: 8 AN XY: 44

Gnomad4 ASJ exome AF: 0.500

Gnomad4 SAS exome AF: 0.00

Gnomad4 FIN exome AF: 0.300

Gnomad4 NFE exome AF: 0.143

Gnomad4 OTH exome AF: 0.500

GnomAD4 genome AF: 0.325 AC: 49407 AN: 152130 Hom.: 8335 Cov.: 33 AF XY: 0.327 AC XY: 24284 AN XY: 74374

Gnomad4 AFR AF: 0.364

Gnomad4 AMR AF: 0.408

Gnomad4 ASJ AF: 0.220

Gnomad4 EAS AF: 0.508

Gnomad4 SAS AF: 0.217

Gnomad4 FIN AF: 0.293

Gnomad4 NFE AF: 0.290

Gnomad4 OTH AF: 0.289

Alfa AF: 0.207 Hom.: 466

Bravo AF: 0.337

Asia WGS AF: 0.374 AC: 1302 AN: 3478

ClinVar

Not reported in ClinVar

Computational scores

Source: dbNSFP v4.3

Name	Calibrated prediction	Score	Prediction
BayesDel_noAF	Benign	-0.81
CADD	Benign	2.0
DANN	Benign	0.69

Splicing

Name	Calibrated prediction	Score	Prediction
SpliceAI score (max)		0.0		Details are displayed if max score is > 0.2

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

Publications

LitVar

Other links and lift over

dbSNP: rs1060266; hg19: chr16-87864475;